ABCA1

Summary

Gene Symbol: ABCA1
Description: ATP binding cassette subfamily A member 1
Alias: ABC-1, ABC1, CERP, HDLDT1, TGD, ATP-binding cassette sub-family A member 1, ATP-binding cassette transporter A1, ATP-binding cassette, sub-family A (ABC1), member 1, cholesterol efflux regulatory protein, membrane-bound
Species: human
Products:     ABCA1

Top Publications

  1. Wang N, Chen W, Linsel Nitschke P, Martinez L, Agerholm Larsen B, Silver D, et al. A PEST sequence in ABCA1 regulates degradation by calpain protease and stabilization of ABCA1 by apoA-I. J Clin Invest. 2003;111:99-107 pubmed
    Cholesterol-loaded macrophage foam cells are a central component of atherosclerotic lesions. ABCA1, the defective molecule in Tangier disease, mediates the efflux of phospholipids and cholesterol from cells to apoA-I, reversing foam cell ..
  2. Denis M, Bissonnette R, Haidar B, Krimbou L, Bouvier M, Genest J. Expression, regulation, and activity of ABCA1 in human cell lines. Mol Genet Metab. 2003;78:265-74 pubmed
    Mutations in the ATP-binding cassette transporter A1 (ABCA1) gene cause familial high-density lipoprotein deficiency and Tangier disease...
  3. Costet P, Lalanne F, Gerbod Giannone M, Molina J, Fu X, Lund E, et al. Retinoic acid receptor-mediated induction of ABCA1 in macrophages. Mol Cell Biol. 2003;23:7756-66 pubmed
    b>ABCA1, the mutant molecule in Tangier Disease, mediates efflux of cellular cholesterol to apoA-I and is induced by liver X receptor (LXR)/retinoid X receptor (RXR) transcription factors...
  4. Santamarina Fojo S, Peterson K, Knapper C, Qiu Y, Freeman L, Cheng J, et al. Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter. Proc Natl Acad Sci U S A. 2000;97:7987-92 pubmed
    The ABCA1 gene, a member of the ATP-binding cassette A (ABCA1) transporter superfamily, encodes a membrane protein that facilitates the cellular efflux of cholesterol and phospholipids...
  5. Tan J, Low P, Tan Y, Tong M, Saha N, Yang H, et al. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum Genet. 2003;113:106-17 pubmed
    Mutations in the ATP-binding cassette transporter ABCA1 underlie Tangier disease and familial hypoalphaliproteinemia (FHA), disorders that are characterised by reduced high-density lipoprotein-cholesterol (HDL-C) concentration and ..
  6. Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette J, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet. 1999;22:352-5 pubmed
    ..and D9S1866 on chromosome 9q31, in which we found the gene encoding human ATP cassette-binding transporter 1 (ABC1)...
  7. Albrecht C, Simon Vermot I, Elliott J, Higgins C, Johnston D, Valabhji J. Leukocyte ABCA1 gene expression is associated with fasting glucose concentration in normoglycemic men. Metabolism. 2004;53:17-21 pubmed
    Adenosine triphosphate (ATP)-binding cassette transporter A1 (ABCA1) mediates the efflux of cholesterol to apolipoprotein A1, a process necessary for high-density lipoprotein (HDL) formation and reverse cholesterol transport...
  8. Neufeld E, Stonik J, Demosky S, Knapper C, Combs C, Cooney A, et al. The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. J Biol Chem. 2004;279:15571-8 pubmed
    We have previously established that the ABCA1 transporter, which plays a critical role in the lipidation of extracellular apolipoprotein acceptors, traffics between late endocytic vesicles and the cell surface (Neufeld, E. B., Remaley, A...
  9. Nofer J, Herminghaus G, Brodde M, Morgenstern E, Rust S, Engel T, et al. Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). J Biol Chem. 2004;279:34032-7 pubmed
    b>ATP binding cassette transporter A1 (ABCA1) is involved in regulation of intracellular lipid trafficking and export of cholesterol from cells to high density lipoproteins...

More Information

Publications113 found, 100 shown here

  1. Hong S, Rhyne J, Miller M. Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. Circ Res. 2003;93:1006-12 pubmed
    Recent studies have implicated mutations in the ATP-binding cassette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA)...
  2. Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999;22:347-51 pubmed
    ..The TD locus has been mapped to chromosome 9q31. Here we present evidence that TD is caused by mutations in ABC1, encoding a member of the ATP-binding cassette (ABC) transporter family, located on chromosome 9q22-31...
  3. Wang J, Burnett J, Near S, Young K, Zinman B, Hanley A, et al. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol. 2000;20:1983-9 pubmed
    Mutations in ABCA1, a member of the ATP-binding cassette family, have been shown to underlie Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA), which are genetic disorders that are characterized by depressed concentrations ..
  4. Remaley A, Thomas F, Stonik J, Demosky S, Bark S, Neufeld E, et al. Synthetic amphipathic helical peptides promote lipid efflux from cells by an ABCA1-dependent and an ABCA1-independent pathway. J Lipid Res. 2003;44:828-36 pubmed
    In order to examine the necessary structural features for a protein to promote lipid efflux by the ABCA1 transporter, synthetic peptides were tested on ABCA1-transfected cells (ABCA1 cells) and on control cells...
  5. Tanaka A, Abe Dohmae S, Ohnishi T, Aoki R, Morinaga G, Okuhira K, et al. Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis. J Biol Chem. 2003;278:8815-9 pubmed
    b>ABCA1 mediates release of cellular cholesterol and phospholipid to form high density lipoprotein (HDL)...
  6. Joyce C, Freeman L, Brewer H, Santamarina Fojo S. Study of ABCA1 function in transgenic mice. Arterioscler Thromb Vasc Biol. 2003;23:965-71 pubmed
    The ATP-binding cassette transporter A1 (ABCA1), identified in 1999 as the gene defective in Tangier disease, promotes efflux of cellular cholesterol from macrophages and other peripheral tissues to apolipoprotein acceptors...
  7. Hong S, Rhyne J, Zeller K, Miller M. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis. 2002;164:245-50 pubmed
    The ATP-binding cassette transporter, ABCA1, is a member of the ABC superfamily of proteins involved in the active transport of substrates across cellular membranes...
  8. Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, et al. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet. 2003;40:163-8 pubmed
    ..Identification of mutations in the ATP binding cassette transporter 1 (ABCA1) gene in patients with Tangier disease, who exhibit reduced HDL cholesterol and apolipoprotein A1 concentrations ..
  9. Lawn R, Wade D, Garvin M, Wang X, Schwartz K, Porter J, et al. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest. 1999;104:R25-31 pubmed
    The ABC1 transporter was identified as the defect in Tangier disease by a combined strategy of gene expression microarray analysis, genetic mapping, and biochemical studies...
  10. Kakko S, Kelloniemi J, von Rohr P, Hoeschele I, Tamminen M, Brousseau M, et al. ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. Atherosclerosis. 2003;166:285-90 pubmed
    ATP-binding cassette transporter A1 (ABCA1) transports cellular cholesterol to lipid-poor apolipoproteins...
  11. Brousseau M, Schaefer E, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp A, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. J Lipid Res. 2000;41:433-41 pubmed
    ..These results establish a causal role for mutations in hABC-1 in TD and indicate that this transporter has a critical function in the regulation of intracellular lipid trafficking that dramatically affects plasma HDL cholesterol levels...
  12. Clee S, Kastelein J, van Dam M, Marcil M, Roomp K, Zwarts K, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest. 2000;106:1263-70 pubmed
    We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux...
  13. Huang W, Moriyama K, Koga T, Hua H, Ageta M, Kawabata S, et al. Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. Biochim Biophys Acta. 2001;1537:71-8 pubmed
    Mutations in the ATP-binding cassette transporter 1 (ABCA1) gene have been recently identified as the molecular defect in Tangier disease (TD) and familial high density lipoprotein deficiency (FHA)...
  14. Frikke Schmidt R, Nordestgaard B, Jensen G, Tybjaerg Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest. 2004;114:1343-53 pubmed
    Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome...
  15. Brousseau M, Bodzioch M, Schaefer E, Goldkamp A, Kielar D, Probst M, et al. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis. 2001;154:607-11 pubmed
    ..Recently, our laboratory and others demonstrated that mutations in the ATP-binding cassette transporter 1 (ABCA1) gene are responsible for Tangier disease, a rare genetic disorder characterized by severely diminished plasma HDL-..
  16. Singaraja R, Brunham L, Visscher H, Kastelein J, Hayden M. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol. 2003;23:1322-32 pubmed
    Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia...
  17. Brooks Wilson A, Marcil M, Clee S, Zhang L, Roomp K, van Dam M, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999;22:336-45 pubmed
    ..This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP).
  18. Marcil M, Brooks Wilson A, Clee S, Roomp K, Zhang L, Yu L, et al. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet. 1999;354:1341-6 pubmed
    ..This gene codes for the cholesterol-efflux regulatory protein (CERP). We investigated the presence of mutations in this gene in patients with familial HDL deficiency.
  19. Yamauchi Y, Hayashi M, Abe Dohmae S, Yokoyama S. Apolipoprotein A-I activates protein kinase C alpha signaling to phosphorylate and stabilize ATP binding cassette transporter A1 for the high density lipoprotein assembly. J Biol Chem. 2003;278:47890-7 pubmed
    ATP-binding cassette transporter A1 (ABCA1) plays an essential role in the helical apolipoprotein-mediated assembly of high density lipoprotein, and the apolipoporteins stabilize ABCA1 against calpain-mediated degradation during the ..
  20. See R, Caday Malcolm R, Singaraja R, Zhou S, Silverston A, Huber M, et al. Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux. J Biol Chem. 2002;277:41835-42 pubmed
    ATP-binding cassette A1 (ABCA1) is a key mediator of cholesterol and phospholipid efflux to apolipoprotein particles...
  21. Liu L, Bortnick A, Nickel M, Dhanasekaran P, Subbaiah P, Lund Katz S, et al. Effects of apolipoprotein A-I on ATP-binding cassette transporter A1-mediated efflux of macrophage phospholipid and cholesterol: formation of nascent high density lipoprotein particles. J Biol Chem. 2003;278:42976-84 pubmed
    ..of formation of high density lipoprotein (HDL) particles by the action of ATP-binding cassette transporter A1 (ABCA1) is not defined completely...
  22. Ho Hong S, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta. 2002;1587:60-4 pubmed
    The recent discovery of an ATP-binding cassette transporter, ABCA1, as an important regulator of high density lipoprotein (HDL) metabolism and reverse cholesterol transport has facilitated the identification of novel variants associated ..
  23. Yamauchi Y, Chang C, Hayashi M, Abe Dohmae S, Reid P, Chang T, et al. Intracellular cholesterol mobilization involved in the ABCA1/apolipoprotein-mediated assembly of high density lipoprotein in fibroblasts. J Lipid Res. 2004;45:1943-51 pubmed
    ..has been suggested for cellular cholesterol and phospholipid release mediated by apolipoprotein A-I (apoA-I)/ABCA1. We investigated various factors involved in cholesterol mobilization related to this pathway...
  24. Hayashi M, Abe Dohmae S, Okazaki M, Ueda K, Yokoyama S. Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7. J Lipid Res. 2005;46:1703-11 pubmed
    ..HDL by helical apolipoprotein and cellular lipid was studied using HEK293 cells to which ecdysone-inducible human ABCA1 or human ABCA7 was transfected...
  25. Trompier D, Alibert M, Davanture S, Hamon Y, Pierres M, Chimini G. Transition from dimers to higher oligomeric forms occurs during the ATPase cycle of the ABCA1 transporter. J Biol Chem. 2006;281:20283-90 pubmed
    ..energy transfer and native PAGE analytical techniques were employed to assess the quaternary structure of ABCA1, an ATP binding cassette transporter playing a crucial role in cellular lipid handling...
  26. Tsai C, Hwang J, Chiang F, Tseng C, Lin J, Tseng Y, et al. ATP-binding cassette transporter A1 gene I823M polymorphism affects plasma high-density lipoprotein cholesterol level and modifies the effect of low high-density lipoprotein cholesterol on the risk of coronary artery disease. Cardiology. 2007;107:321-8 pubmed
    The I823M polymorphism of the ATP-binding cassette transporter A1 (ABCA1) gene has been reported to affect plasma high-density lipoprotein cholesterol (HDL-C) level...
  27. Vedhachalam C, Duong P, Nickel M, Nguyen D, Dhanasekaran P, Saito H, et al. Mechanism of ATP-binding cassette transporter A1-mediated cellular lipid efflux to apolipoprotein A-I and formation of high density lipoprotein particles. J Biol Chem. 2007;282:25123-30 pubmed
    The ATP-binding cassette transporter A1 (ABCA1) plays a critical role in the biogenesis of high density lipoprotein (HDL) particles and in mediating cellular cholesterol efflux...
  28. Mauerer R, Ebert S, Langmann T. High glucose, unsaturated and saturated fatty acids differentially regulate expression of ATP-binding cassette transporters ABCA1 and ABCG1 in human macrophages. Exp Mol Med. 2009;41:126-32 pubmed
    The ATP-binding cassette transporters ABCA1 and ABCG1 are highly expressed in macrophage-derived foam cells and promote reverse cholesterol efflux via biogenesis of high-density lipoproteins...
  29. Sorci Thomas M, Owen J, Fulp B, Bhat S, Zhu X, Parks J, et al. Nascent high density lipoproteins formed by ABCA1 resemble lipid rafts and are structurally organized by three apoA-I monomers. J Lipid Res. 2012;53:1890-909 pubmed publisher
    ..This report details the lipid composition of nascent HDL (nHDL) particles formed by the action of the ATP binding cassette transporter A1 (ABCA1) on apolipoprotein A-I (apoA-I)...
  30. Tregouet D, Ricard S, Nicaud V, Arnould I, Soubigou S, Rosier M, et al. In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol. 2004;24:775-81 pubmed
    By regulating the cellular cholesterol efflux from peripheral cells to high-density lipoprotein, the ABCA1 protein is suspected to play a key role in lipid homeostasis and atherosclerosis...
  31. Kielar D, Dietmaier W, Langmann T, Aslanidis C, Probst M, Naruszewicz M, et al. Rapid quantification of human ABCA1 mRNA in various cell types and tissues by real-time reverse transcription-PCR. Clin Chem. 2001;47:2089-97 pubmed
    The ABCA1 gene encodes for a member of subfamily A of the ATP-binding cassette transporters that plays an important role in cellular export of cholesterol and phospholipids; therefore, quantification of the ABCA1 mRNA is critical in many ..
  32. Cohen J, Kiss R, Pertsemlidis A, Marcel Y, McPherson R, Hobbs H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 2004;305:869-72 pubmed
    ..We sequenced three candidate genes (ABCA1, APOA1, and LCAT) that cause Mendelian forms of low HDL-C levels in individuals from a population-based study...
  33. Daimon M, Kido T, Baba M, Oizumi T, Jimbu Y, Kameda W, et al. Association of the ABCA1 gene polymorphisms with type 2 DM in a Japanese population. Biochem Biophys Res Commun. 2005;329:205-10 pubmed
    To examine the association of the ATP-binding cassette transporter 1 (ABCA1) gene with type 2 diabetes (DM), we studied genetic polymorphisms of the ABCA1 gene including its linkage disequilibrium (LD) and haplotype analyses using a ..
  34. Kitjaroentham A, Hananantachai H, Tungtrongchitr A, Pooudong S, Tungtrongchitr R. R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. Arch Med Res. 2007;38:834-8 pubmed
    b>ATP binding cassette transporter A1 (ABCA1) plays a role in the initial stage of removing cholesterol from the body via cholesterol efflux...
  35. Slatter T, Jones G, Williams M, van Rij A, McCormick S. Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels. Clin Genet. 2008;73:179-84 pubmed publisher
    The ATP-binding cassette A1 (ABCA1) protein regulates plasma high-density lipoprotein (HDL) levels. Mutations in ABCA1 can cause HDL deficiency and increase the risk of premature coronary artery disease...
  36. Mauldin J, Nagelin M, Wojcik A, Srinivasan S, Skaflen M, Ayers C, et al. Reduced expression of ATP-binding cassette transporter G1 increases cholesterol accumulation in macrophages of patients with type 2 diabetes mellitus. Circulation. 2008;117:2785-92 pubmed publisher
    ..The ATP-binding cassette (ABC) transporters ABCA1 and ABCG1 regulate macrophage cholesterol efflux and hence play a vital role in macrophage foam cell formation...
  37. Martinez L, Agerholm Larsen B, Wang N, Chen W, Tall A. Phosphorylation of a pest sequence in ABCA1 promotes calpain degradation and is reversed by ApoA-I. J Biol Chem. 2003;278:37368-74 pubmed
    ATP-binding cassette transporter A1 (ABCA1), the defective molecule in Tangier disease, mediates the apoAI-dependent efflux of excess cholesterol from cells...
  38. Hoang A, Tefft C, Duffy S, Formosa M, Henstridge D, Kingwell B, et al. ABCA1 expression in humans is associated with physical activity and alcohol consumption. Atherosclerosis. 2008;197:197-203 pubmed
    Genetic variation in ABCA1 significantly affects HDL levels and atherosclerotic risk. The aim of this study was to examine lifestyle factors influencing ABCA1 expression in human leukocytes and skeletal muscle...
  39. Wang J, Bao Y, Hu C, Zhang R, Wang C, Lu J, et al. Effects of ABCA1 variants on rosiglitazone monotherapy in newly diagnosed type 2 diabetes patients. Acta Pharmacol Sin. 2008;29:252-8 pubmed publisher
    ..to investigate the relationship between R219K, M883I, and R1587K variants of the ATP-binding cassette transporter subfamily A number 1 (ABCA1) gene and response to rosiglitazone treatment in newly diagnosed patients with type 2 diabetes.
  40. Salinas C, Cruz Bautista I, Mehta R, Villarreal Molina M, Pérez F, Tusié Luna M, et al. The ATP-binding cassette transporter subfamily A member 1 (ABC-A1) and type 2 diabetes: an association beyond HDL cholesterol. Curr Diabetes Rev. 2007;3:264-7 pubmed
    ..Moreover, animal models confirm the participation of ABC-A1 in the pathogenesis of diabetes. Mice lacking AbcA1 specifically in beta cells had glucose intolerance at 8 weeks of age...
  41. Frikke Schmidt R, Nordestgaard B, Stene M, Sethi A, Remaley A, Schnohr P, et al. Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease. JAMA. 2008;299:2524-32 pubmed publisher
    ..Low levels of high-density lipoprotein (HDL) cholesterol are inversely related to cardiovascular risk. Whether this is a causal effect is unclear...
  42. DI D, Wang Z, Liu Y, Luo G, Shi Y, Berggren Söderlund M, et al. ABCA1 upregulating apolipoproein M expression mediates via the RXR/LXR pathway in HepG2 cells. Biochem Biophys Res Commun. 2012;421:152-6 pubmed publisher
    ..It has been reported that TO901317 could activate the ATP-binding cassette transporter A1 (ABCA1) that mediates cholesterol efflux to the lipid-poor apoAI, which is an essential step for the high-density ..
  43. Clee S, Zwinderman A, Engert J, Zwarts K, Molhuizen H, Roomp K, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198-205 pubmed
    ..We recently identified the ATP-binding cassette transporter 1 (ABCA1) as the major gene underlying the HDL deficiency associated with reduced cholesterol efflux...
  44. Joyce C, Amar M, Lambert G, Vaisman B, Paigen B, Najib Fruchart J, et al. The ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout mice. Proc Natl Acad Sci U S A. 2002;99:407-12 pubmed
    Identification of mutations in the ABCA1 transporter (ABCA1) as the genetic defect in Tangier disease has generated interest in modulating atherogenic risk by enhancing ABCA1 gene expression...
  45. Chen W, Wang N, Tall A. A PEST deletion mutant of ABCA1 shows impaired internalization and defective cholesterol efflux from late endosomes. J Biol Chem. 2005;280:29277-81 pubmed
    ATP-binding cassette transporter A1 (ABCA1) promotes the efflux of cellular cholesterol and phospholipids to apoA-I...
  46. Hamon Y, Trompier D, Ma Z, VENEGAS V, Pophillat M, Mignotte V, et al. Cooperation between engulfment receptors: the case of ABCA1 and MEGF10. PLoS ONE. 2006;1:e120 pubmed
    ..of forced expression by transfection, MEGF10 function can be modulated by the ATP binding cassette transporter ABCA1, ortholog to CED-7...
  47. Jensen M, Pai J, Mukamal K, Overvad K, Rimm E. Common genetic variation in the ATP-binding cassette transporter A1, plasma lipids, and risk of coronary heart disease. Atherosclerosis. 2007;195:e172-80 pubmed
    The ATP-binding cassette transporter A-1 (ABCA1) regulates cholesterol efflux from cells and is involved in high-density lipoprotein (HDL) metabolism and atherogenesis...
  48. Zarubica A, Plazzo A, Stöckl M, Trombik T, Hamon Y, Muller P, et al. Functional implications of the influence of ABCA1 on lipid microenvironment at the plasma membrane: a biophysical study. FASEB J. 2009;23:1775-85 pubmed publisher
    The ABCA1 transporter orchestrates cellular lipid homeostasis by promoting the release of cholesterol to plasmatic acceptors. The molecular mechanism is, however, unknown...
  49. Versmissen J, Oosterveer D, Yazdanpanah M, Mulder M, Dehghan A, Defesche J, et al. A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients. Eur Heart J. 2011;32:469-75 pubmed publisher
    ..One of many genes influenced by statin treatment is the ATP-binding cassette transporter A1 (ABCA1) gene, which plays an important role in metabolism of high-density lipoprotein (HDL)...
  50. Kobayashi A, Takanezawa Y, Hirata T, Shimizu Y, Misasa K, Kioka N, et al. Efflux of sphingomyelin, cholesterol, and phosphatidylcholine by ABCG1. J Lipid Res. 2006;47:1791-802 pubmed
    ..Mass and TLC analyses revealed that ABCG1 and ABCA1 secrete several species of sphingomyelin (SM) and phosphatidylcholine (PC), and SMs were preferentially secreted ..
  51. Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt N, Roos C, et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med. 2008;358:1240-9 pubmed publisher
    ..The score did not improve risk discrimination but did modestly improve clinical risk reclassification for individual subjects beyond standard clinical factors. ..
  52. Nofer J, Remaley A. Tangier disease: still more questions than answers. Cell Mol Life Sci. 2005;62:2150-60 pubmed
    ..search for a culprit in Tangier disease led to the identification of mutations in a cell membrane protein called ABCA1, which mediates the secretion of excess cholesterol from cells into the HDL metabolic pathway...
  53. Miller M, Rhyne J, Hong S, Friel G, Dolinar C, Riley W. Do mutations causing low HDL-C promote increased carotid intima-media thickness?. Clin Chim Acta. 2007;377:273-5 pubmed
    ..intima-media thickness (cIMT) measurements were obtained in cases comprising 10 different mutations in LCAT, ABCA1 and APOA1 to further evaluate the relationship between low HDL resulting from genetic variation and early ..
  54. Jiang Z, Zhou R, Xu C, Feng G, Zhou Y. Genetic variation of the ATP-binding cassette transporter A1 and susceptibility to coronary heart disease. Mol Genet Metab. 2011;103:81-8 pubmed publisher
    ATP-binding cassette transporter A1 (ABCA1) is a member of a superfamily of membrane proteins that has attracted considerable attention as a candidate gene for coronary heart disease (CHD) based on its enzyme function as a key factor in ..
  55. Remaley A, Rust S, Rosier M, Knapper C, Naudin L, Broccardo C, et al. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci U S A. 1999;96:12685-90 pubmed
    ..b>ABC1, a member of the ATP-binding cassette family, recently has been identified as the defective gene in Tangier disease...
  56. Evans D, Beil F. The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia. J Mol Med (Berl). 2003;81:264-70 pubmed
    The R219K polymorphism in the ATP-binding cassette transporter 1 gene ( ABCA1) has been associated with reduced severity of atherosclerosis, fewer coronary events, decreased triglycerides and a trend to increased HDL in men with coronary ..
  57. Wellington C, Brunham L, Zhou S, Singaraja R, Visscher H, Gelfer A, et al. Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1. J Lipid Res. 2003;44:1470-80 pubmed
    b>ATP binding cassette transporter A1 (ABCA1) is a widely expressed lipid transporter essential for the generation of HDL. ABCA1 is particularly abundant in the liver, suggesting that the liver may play a major role in HDL homeostasis...
  58. Darabi M, Rabbani M, Ani M, Zarean E, Panjehpour M, Movahedian A. Increased leukocyte ABCA1 gene expression in post-menopausal women on hormone replacement therapy. Gynecol Endocrinol. 2011;27:701-5 pubmed publisher
    The ATP binding cassette A1 (ABCA1) is a key participant in the reverse cholesterol process whereby mediates cholesterol efflux directly to HDL particles...
  59. Harada T, Imai Y, Nojiri T, Morita H, Hayashi D, Maemura K, et al. A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population. Atherosclerosis. 2003;169:105-12 pubmed
    Recently, variants in ATP-binding cassette transporter A1 (ABCA1) were demonstrated to be associated with increased level of high density lipoprotein cholesterol (HDL-C) and decreased risk of coronary artery disease (CAD) in Caucasians...
  60. Katzov H, Chalmers K, Palmgren J, Andreasen N, Johansson B, Cairns N, et al. Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism. Hum Mutat. 2004;23:358-67 pubmed
    ..The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate ..
  61. Porchay I, Pean F, Bellili N, Royer B, Cogneau J, Chesnier M, et al. ABCA1 single nucleotide polymorphisms on high-density lipoprotein-cholesterol and overweight: the D.E.S.I.R. study. Obesity (Silver Spring). 2006;14:1874-9 pubmed
    The adenosine triphosphate-binding cassette A1 (ABCA1) gene plays a key role in reverse cholesterol transport. Some ABCA1 gene polymorphisms have been associated with high-density lipoprotein-cholesterol (HDL-C) concentrations...
  62. Wang F, Jia J. [Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease]. Zhonghua Yi Xue Za Zhi. 2007;87:614-8 pubmed
    ..SNPs) A-->G in the intron 2 of cholesterol 24-hydroxylase (CYP46) gene and G-->A (R219K) in the exon 6 of ATP-binding cassette transporter A1 (ABCA1) gene with sporadic Alzheimer's disease (SAD) in the Han Chinese population.
  63. Villarreal Molina M, Flores Dorantes M, Arellano Campos O, Villalobos Comparan M, Rodriguez Cruz M, Miliar Garcia A, et al. Association of the ATP-binding cassette transporter A1 R230C variant with early-onset type 2 diabetes in a Mexican population. Diabetes. 2008;57:509-13 pubmed
    The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with low HDL cholesterol levels, obesity, and the metabolic syndrome in Mexican-Mestizos...
  64. Li J, Wang L, Li Z, Pan W. Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. Clin Exp Pharmacol Physiol. 2009;36:567-70 pubmed publisher
    ..present study, we investigated the effects of the R219K polymorphism of the ATP-binding cassette transporter A1 (ABCA1) gene on serum lipid levels and the response to statin therapy in Chinese patients with coronary heart disease (..
  65. Delgado Lista J, Perez Martinez P, Perez Jimenez F, Garcia Rios A, Fuentes F, Marin C, et al. ABCA1 gene variants regulate postprandial lipid metabolism in healthy men. Arterioscler Thromb Vasc Biol. 2010;30:1051-7 pubmed publisher
    Genetic variants of ABCA1, an ATP-binding cassette (ABC) transporter, have been linked to altered atherosclerosis progression and fasting lipid concentration, mainly high-density lipoproteins and apolipoprotein A1; however, results from ..
  66. Flores Dorantes T, Arellano Campos O, Posadas Sánchez R, Villarreal Molina T, Medina Urrutia A, Romero Hidalgo S, et al. Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children. Clin Chim Acta. 2010;411:1214-7 pubmed publisher
    The effect of ABCA1 genetic variation on HDL-C levels has been widely documented, although studies in children are scarce...
  67. Zwarts K, Clee S, Zwinderman A, Engert J, Singaraja R, Loubser O, et al. ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin Genet. 2002;61:115-25 pubmed
    The authors have previously shown that individuals heterozygous for ABCA1 mutations have decreased high density lipoprotein cholesterol, increased triglycerides and an increased frequency of coronary artery disease (CAD), and that single ..
  68. Singaraja R, Fievet C, Castro G, James E, Hennuyer N, Clee S, et al. Increased ABCA1 activity protects against atherosclerosis. J Clin Invest. 2002;110:35-42 pubmed
    The ABC transporter ABCA1 plays a key role in the first steps of the reverse cholesterol transport pathway by mediating lipid efflux from macrophages...
  69. Denis M, Haidar B, Marcil M, Bouvier M, Krimbou L, Genest J. Molecular and cellular physiology of apolipoprotein A-I lipidation by the ATP-binding cassette transporter A1 (ABCA1). J Biol Chem. 2004;279:7384-94 pubmed
    The dynamics of ABCA1-mediated apoA-I lipidation were investigated in intact human fibroblasts induced with 22(R)-hydroxycholesterol and 9-cis-retinoic acid (stimulated cells)...
  70. Soro Paavonen A, Naukkarinen J, Lee Rueckert M, Watanabe H, Rantala E, Soderlund S, et al. Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL. J Lipid Res. 2007;48:1409-16 pubmed
    HDL promotes cholesterol efflux from peripheral cells via ABCA1 in the first step of reverse cholesterol transport (RCT)...
  71. Vergeer M, Brunham L, Koetsveld J, Kruit J, Verchere C, Kastelein J, et al. Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction. Diabetes Care. 2010;33:869-74 pubmed publisher
    ..beta-Cell deficiency for the ATP binding cassette transporter A1 (ABCA1), which mediates the efflux of cellular cholesterol, leads to altered intracellular ..
  72. Romero Hidalgo S, Villarreal Molina T, Gonzalez Barrios J, Canizales Quinteros S, Rodríguez Arellano M, Yañez Velazco L, et al. Carbohydrate intake modulates the effect of the ABCA1-R230C variant on HDL cholesterol concentrations in premenopausal women. J Nutr. 2012;142:278-83 pubmed publisher
    The R230C variant of the ATP-binding cassette transporter A1 (ABCA1) gene has been consistently associated with decreased HDL-cholesterol (HDL-C) concentrations in several studies in the Mexican mestizo population...
  73. Smith B, Land H. Anticancer activity of the cholesterol exporter ABCA1 gene. Cell Rep. 2012;2:580-90 pubmed publisher
    The ABCA1 protein mediates the transfer of cellular cholesterol across the plasma membrane to apolipoprotein A-I...
  74. van Dam M, de Groot E, Clee S, Hovingh G, Roelants R, Brooks Wilson A, et al. Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. Lancet. 2002;359:37-42 pubmed
    ..Cholesterol efflux is mediated by the ATP-binding cassette A1 transporter (ABCA1), the rate-limiting step in the production of HDL...
  75. Zhao S, Xiao Z, Li Q, Nie S, Tan L, Jiang B, et al. [Relationship between ATP-binding cassette transporter 1 R219K genetic variation and blood lipids]. Zhonghua Yi Xue Za Zhi. 2004;84:1421-5 pubmed
    To investigate whether ATP-binding cassette transporter 1 (ABCA1) R219K genetic variation is correlated with blood lipids.
  76. Martin M, Gonzalez P, Reguero J, Batalla A, Garcia Castro M, Coto E, et al. ABCA1 polymorphisms and prognosis after myocardial infarction in young patients. Int J Cardiol. 2006;110:267-8 pubmed
    ..We have analysed three polymorphisms of the ABCA1 gene (-477C/T, R219 K, and I883M) in a cohort of young male survivors of myocardial infarction in order to know ..
  77. Takahashi K, Kimura Y, Kioka N, Matsuo M, Ueda K. Purification and ATPase activity of human ABCA1. J Biol Chem. 2006;281:10760-8 pubmed
    ATP-binding cassette protein A1 (ABCA1) plays a major role in cholesterol homeostasis and high density lipoprotein metabolism...
  78. Genvigir F, Soares S, Hirata M, Willrich M, Arazi S, Rebecchi I, et al. Effects of ABCA1 SNPs, including the C-105T novel variant, on serum lipids of Brazilian individuals. Clin Chim Acta. 2008;389:79-86 pubmed publisher
    b>ABCA1 plays an important role in HDL metabolism. Single nucleotide polymorphisms (SNPs) in ABCA1 gene were associated with variation in plasma HDL-c.
  79. Li Y, Tang K, Zhou K, Wei Z, Zeng Z, He L, et al. Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease. Mol Biol Rep. 2012;39:1809-13 pubmed publisher
    ..studies have been conducted to investigate the relationship between the ATP-binding cassette transporter A1 (ABCA1) R219K polymorphism and coronary heart disease (CHD). However, the results have been inconclusive...
  80. Villarreal Molina T, Posadas Romero C, Romero Hidalgo S, Antúnez Argüelles E, Bautista Grande A, Vargas Alarcon G, et al. The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study. PLoS ONE. 2012;7:e49285 pubmed publisher
    b>ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk...
  81. Probst M, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, et al. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis. 2004;175:269-79 pubmed
    Mutations in the ATP-binding cassette 1 transporter gene (ABCA1) are responsible for the genetic HDL-deficiency syndromes, which are characterized by severely diminished plasma HDL-C levels and a predisposition to cardiovascular disease ..
  82. Whiting B, Anderson J, Muhlestein J, Horne B, Bair T, Pearson R, et al. Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease. Am Heart J. 2005;150:243-50 pubmed
    ..Moderate-sized studies have suggested that variants of candidate genes can influence laboratory markers of coronary artery disease (CAD), but whether they predict parallel changes in clinical CAD risk is unknown...
  83. Singaraja R, Visscher H, James E, Chroni A, Coutinho J, Brunham L, et al. Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. Circ Res. 2006;99:389-97 pubmed
    Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels...
  84. Chu L, Li Y, Li Z, Tang A, Cheung B, Leung R, et al. A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer's disease in Chinese. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:1007-13 pubmed
    Recent genetic studies have shown that variants of the ATP-binding cassette transporter A1, ABCA1, may be implicated in the pathogenesis of Alzheimer's disease (AD)...
  85. Vaughan A, Tang C, Oram J. ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation. J Lipid Res. 2009;50:285-92 pubmed publisher
    b>ABCA1 exports cholesterol and phospholipids from cells by a multistep pathway that involves forming cell surface lipid domains, solubilizing these lipids by apolipoproteins, binding of apolipoproteins to ABCA1, and activating signaling ..
  86. Frikke Schmidt R. Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population. Atherosclerosis. 2010;208:305-16 pubmed publisher
    ..This review focuses on whether both rare and common genetic variation in ABCA1 contributes to plasma levels of HDL cholesterol and to risk of IHD in the general population, and further seeks to ..
  87. Yu X, Murao K, Imachi H, Li J, Nishiuchi T, Hosomi N, et al. Hyperglycemia suppresses ABCA1 expression in vascular smooth muscle cells. Horm Metab Res. 2010;42:241-6 pubmed publisher
    Hyperglycemia is a major risk factor for atherosclerotic disease. The ATP-binding cassette transporter A1 (ABCA1) functions as a pivotal regulator of lipid efflux from cells to apolipoproteins and is thus involved in lowering the risk of ..
  88. Tsai M, Ordovas J, Li N, Straka R, Hanson N, Arends V, et al. Effect of fenofibrate therapy and ABCA1 polymorphisms on high-density lipoprotein subclasses in the Genetics of Lipid Lowering Drugs and Diet Network. Mol Genet Metab. 2010;100:118-22 pubmed publisher
    Previous studies have shown that ATP-binding cassette transporter 1 (ABCA1) polymorphisms associated with increased ABCA1 expression result in increased small HDL (high-density lipoprotein) subclass particle concentration...
  89. Smith J, Waelde C, Horwitz A, Zheng P. Evaluation of the role of phosphatidylserine translocase activity in ABCA1-mediated lipid efflux. J Biol Chem. 2002;277:17797-803 pubmed
    The following two theories for the mechanism of ABCA1 in lipid efflux to apolipoprotein acceptors have been proposed: 1) that ABCA1 directly binds the apolipoprotein ligand and then facilitates lipid efflux and 2) that ABCA1 acts as a ..
  90. Hodoglugil U, Williamson D, Huang Y, Mahley R. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks. Atherosclerosis. 2005;183:199-212 pubmed
    ..of atherosclerosis is generally attributed to its role in reverse cholesterol transport, and the ATP binding cassette transporter A1 (ABCA1) is a key element of this process...
  91. Passarelli M, Tang C, McDonald T, O Brien K, Gerrity R, Heinecke J, et al. Advanced glycation end product precursors impair ABCA1-dependent cholesterol removal from cells. Diabetes. 2005;54:2198-205 pubmed
    ..The ATP-binding cassette transporter A1 (ABCA1) is an atheroprotective cell protein that mediates cholesterol transport from cells to apolipoprotein (apo) A-I, ..
  92. Duong P, Collins H, Nickel M, Lund Katz S, Rothblat G, Phillips M. Characterization of nascent HDL particles and microparticles formed by ABCA1-mediated efflux of cellular lipids to apoA-I. J Lipid Res. 2006;47:832-43 pubmed
    The nascent HDL created by ABCA1-mediated efflux of cellular phospholipid (PL) and free (unesterified) cholesterol (FC) to apolipoprotein A-I (apoA-I) has not been defined...