carnitine acyltransferases


Summary: Acyltransferases in the inner mitochondrial membrane that catalyze the reversible transfer of acyl groups from acyl-CoA to L-carnitine and thereby mediate the transport of activated fatty acids through that membrane. EC 2.3.1.

Top Publications

  1. Jogl G, Hsiao Y, Tong L. Crystal structure of mouse carnitine octanoyltransferase and molecular determinants of substrate selectivity. J Biol Chem. 2005;280:738-44 pubmed
    b>Carnitine acyltransferases have crucial functions in fatty acid metabolism. Members of this enzyme family show distinctive substrate preferences for short-, medium- or long-chain fatty acids...
  2. Westin M, Hunt M, Alexson S. Short- and medium-chain carnitine acyltransferases and acyl-CoA thioesterases in mouse provide complementary systems for transport of beta-oxidation products out of peroxisomes. Cell Mol Life Sci. 2008;65:982-90 pubmed publisher
    ..Here we have performed tissue expression profiling of the short- and medium-chain carnitine acyltransferases Crat, Crot and the short- and medium-chain thioesterases (Acot12) and (Acot5), and show that they are ..
  3. Morita M, Kanai M, Mizuno S, Iwashima M, Hayashi T, Shimozawa N, et al. Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis. 2008;31:442-9 pubmed publisher
    ..In addition, we found that BTM did not upregulate the expression of ABCD2/ALDR, ABCD3/PMP70, ACOX1 and FATP4 genes but slightly increased ACSVL1 gene expression...
  4. Karlic H, Lohninger A, Laschan C, Lapin A, Böhmer F, Huemer M, et al. Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes. J Mol Med (Berl). 2003;81:435-42 pubmed
    ..The described reduction in transcription of different genes in blood cells which is well known in different tissues may reflect a systemic signaling process, associated with aging, apoptosis, and MDS. ..
  5. Ramsay R, Zammit V. Carnitine acyltransferases and their influence on CoA pools in health and disease. Mol Aspects Med. 2004;25:475-93 pubmed
    ..The location, properties of and deficiencies in the carnitine acyltransferases are described in relation to their influence on the CoA pools in the cell and, hence, on metabolism...
  6. Jogl G, Hsiao Y, Tong L. Structure and function of carnitine acyltransferases. Ann N Y Acad Sci. 2004;1033:17-29 pubmed
    b>Carnitine acyltransferases catalyze the exchange of acyl groups between carnitine and coenzyme A (CoA)...
  7. Farrell S, Fiol C, Reddy J, Bieber L. Properties of purified carnitine acyltransferases of mouse liver peroxisomes. J Biol Chem. 1984;259:13089-95 pubmed
    The purpose of this study was to characterize the physical, kinetic, and immunological properties of carnitine acyltransferases purified from mouse liver peroxisomes...
  8. Ramsay R. The carnitine acyltransferases: modulators of acyl-CoA-dependent reactions. Biochem Soc Trans. 2000;28:182-6 pubmed
    Carnitine and carnitine acyltransferases were thought to be merely a mechanism for the rapid transfer of activated long-chain fatty acids into the mitochondrion for beta-oxidation, until enzymologists came along...
  9. Oey N, IJlst L, van Roermund C, Wijburg F, Wanders R. dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase. Mol Genet Metab. 2005;85:121-4 pubmed
    ..This finding is well in line with the recent observation that embryos are capable of oxidizing fatty acids and furthermore implies that FAO is essential during early embryonic development when the energy demand is high. ..

More Information


  1. Yang B, Mallory J, Roe D, Brivet M, Strobel G, Jones K, et al. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. Mol Genet Metab. 2001;73:64-70 pubmed
    ..The proband and her affected sibling were homozygous for this deletion. ..
  2. Mahapatra S, Ananth A, Baugh N, Damian M, Enns G. Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. JIMD Rep. 2018;39:19-23 pubmed publisher
    ..The child was managed, thereafter, on triheptanoin until her death at 3 years of age from a cardiopulmonary arrest in the setting of acute respiratory illness superimposed on chronic hypercarbic respiratory failure. ..
  3. Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, et al. Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. Mol Genet Metab. 2011;102:399-406 pubmed publisher
    ..Metabolic autopsy and expanded newborn screening would be helpful for forensic scientists and pediatricians to diagnose fatty acid oxidation disorders and prevent sudden unexpected death in infancy. ..
  4. Clouet P, Demizieux L, Gresti J, Degrace P. Mitochondrial respiration on rumenic and linoleic acids. Biochem Soc Trans. 2001;29:320-5 pubmed
    ..The slower respiration on cis-9, trans-11-C(18:2) is suggested to arise from lower carnitine-acylcarnitine translocase activity towards the acylcarnitine form, causing an upstream increase in the corresponding acyl-CoA. ..
  5. Gacias M, Pérez Martí A, Pujol Vidal M, Marrero P, Haro D, Relat J. PGC-1? regulates mouse carnitine-acylcarnitine translocase through estrogen-related receptor ?. Biochem Biophys Res Commun. 2012;423:838-43 pubmed publisher
    ..We also demonstrate that XTC790, the inverse agonist of ERR?, specifically blocks Cact activation by PGC-1? in C2C12 cells. ..
  6. Lapsys N, Kriketos A, Lim Fraser M, Poynten A, Lowy A, Furler S, et al. Expression of genes involved in lipid metabolism correlate with peroxisome proliferator-activated receptor gamma expression in human skeletal muscle. J Clin Endocrinol Metab. 2000;85:4293-7 pubmed
  7. En Nosse M, Hartmann S, Trinkaus K, Alt V, Stigler B, Heiss C, et al. Expression of non-neuronal cholinergic system in osteoblast-like cells and its involvement in osteogenesis. Cell Tissue Res. 2009;338:203-15 pubmed publisher
    ..Thus, the cholinergic system of osteoblast-like cells might be regulated by BMP-2 during bone remodeling. Osteoblast-like cells express all necessary enzymes, transporters, and receptors for ACh synthesis and recycling. ..
  8. Morillas M, Clotet J, Rubi B, Serra D, Arino J, Hegardt F, et al. Inhibition by etomoxir of rat liver carnitine octanoyltransferase is produced through the co-ordinate interaction with two histidine residues. Biochem J. 2000;351 Pt 2:495-502 pubmed
    ..Our data demonstrate that both etomoxir and malonyl-CoA inhibit COT by interacting with the same sites. ..
  9. Henriques B, Olsen R, Bross P, Gomes C. Emerging roles for riboflavin in functional rescue of mitochondrial ?-oxidation flavoenzymes. Curr Med Chem. 2010;17:3842-54 pubmed
    ..Overall, a deeper understanding of these emerging roles of riboflavin intake is essential to design better therapies. ..
  10. Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, et al. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1. Anal Bioanal Chem. 2013;405:1345-51 pubmed publisher
    ..Hence, intracellular AC profiling using the IVP assay under reduced C0 conditions is a useful method for diagnosing PCD or CPT1 deficiency. ..
  11. Cronin C. Redesign of choline acetyltransferase specificity by protein engineering. J Biol Chem. 1998;273:24465-9 pubmed
    ..These dramatic alterations in catalytic function demonstrate that significant success in protein redesign can be achieved in the absence of three-dimensional protein structure data. ..
  12. Miliar A, Serra D, Casaroli R, Vilaro S, Asins G, Hegardt F. Developmental changes in carnitine octanoyltransferase gene expression in intestine and liver of suckling rats. Arch Biochem Biophys. 2001;385:283-9 pubmed
  13. Martinez O, Marco E, Gago F, Laborda F, Ramón De Lucas J. Suppression of the acuH13 and acuH31 nonsense mutations in the carnitine/acylcarnitine translocase (acuH) gene of Aspergillus nidulans by the G265S substitution in the domain 2 of the release factor eRF1. Fungal Genet Biol. 2007;44:139-51 pubmed
  14. Tonazzi A, Giangregorio N, Indiveri C, Palmieri F. Identification by site-directed mutagenesis and chemical modification of three vicinal cysteine residues in rat mitochondrial carnitine/acylcarnitine transporter. J Biol Chem. 2005;280:19607-12 pubmed
    ..They indicate that Cys(58), Cys(136), and Cys(155) become close in the tertiary structure of the CAC during its catalytic cycle. ..
  15. Maurer I, Zierz S, Moller H. Carnitine acyltransferases are not changed in Alzheimer disease. Alzheimer Dis Assoc Disord. 1998;12:71-6 pubmed
    ..Total CPT activity, COT activity, and CAT activity are not affected in AD nor is the ratio of CPT I to CPT II altered in the AD versus the normal human brain. ..
  16. Ogawa A, Yamamoto S, Kanazawa M, Takayanagi M, Hasegawa S, Kohno Y. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. J Hum Genet. 2000;45:52-5 pubmed
    ..Each of these mutations is hypothesized to destroy the function of the CACT protein. We propose that each of these mutations of the CACT gene play a causative role in the disease. ..
  17. Lopriore E, Gemke R, Verhoeven N, Jakobs C, Wanders R, Roeleveld Versteeg A, et al. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr. 2001;160:101-4 pubmed
    ..Vigorous work-up in order to reach an expedite diagnosis and prompt medical intervention during acute episodes, especially in the neonatal period, may prevent fatal complications. ..
  18. Sugi K, Hsieh P, Ilkayeva O, Shelkay S, Moroney B, Baadh P, et al. Kruppel-like factor 15 is required for the cardiac adaptive response to fasting. PLoS ONE. 2018;13:e0192376 pubmed publisher
    ..Our observations establish KLF15 as a critical mediator of the cardiac adaptive response to fasting through its regulation of myocardial lipid utilization. ..
  19. Chatterjee B, Song C, Kim J, Roy A. Cloning, sequencing, and regulation of rat liver carnitine octanoyltransferase: transcriptional stimulation of the enzyme during peroxisome proliferation. Biochemistry. 1988;27:9000-6 pubmed
    ..Hybridization studies showed that the increased COT activity in the liver of rats, fed the potent peroxisome-proliferating drug Wy-14,643, is associated with a more than 40-fold rise in the steady-state level of the COT mRNA. ..
  20. Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, et al. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004;24:312-20 pubmed
    ..coli and functional reconstitution into liposomes. Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between the phenotype and the genotype. ..
  21. Tonazzi A, Console L, Indiveri C. Inhibition of mitochondrial carnitine/acylcarnitine transporter by H(2)O(2): molecular mechanism and possible implication in pathophysiology. Chem Biol Interact. 2013;203:423-9 pubmed publisher
    ..All the data concur to demonstrate that H(2)O(2) interacts with C136 and C155 and completely inactivates the transporter by inducing the formation of a disulphide. ..
  22. Du S, Zhang F, Yu Y, Chen C, Wang H, Li D. Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. Forensic Sci Int. 2017;278:e41-e44 pubmed publisher
    ..Therefore, we speculated that CPT2 deficiency might be the cause of death based on the results of staining, tandem mass spectrometry analysis and parental genetic testing. ..
  23. Morillas M, Gomez Puertas P, Roca R, Serra D, Asins G, Valencia A, et al. Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity. J Biol Chem. 2001;276:45001-8 pubmed
    ..The structural model explains the loss of activity reported for the CPT I mutations R451A, W452A, D454G, W391A, del R395, P479L, and L484P, all of which occur in or near the modeled catalytic domain. ..
  24. Son H, Min K, Lee J, Choi G, Kim J, Lee Y. Mitochondrial carnitine-dependent acetyl coenzyme A transport is required for normal sexual and asexual development of the ascomycete Gibberella zeae. Eukaryot Cell. 2012;11:1143-53 pubmed publisher
    ..zeae CATs are responsible for facilitating the exchange of acetyl-CoA across intracellular membranes, particularly between the mitochondria and the cytosol, during various developmental stages...
  25. Jong Yeon K, Hickner R, Dohm G, Houmard J. Long- and medium-chain fatty acid oxidation is increased in exercise-trained human skeletal muscle. Metabolism. 2002;51:460-4 pubmed
    ..In contrast, carnitine-mediated transport (COT) does not appear to contribute to an enhancement in MCFA oxidation with exercise training. ..
  26. Wang G, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, et al. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab. 2011;103:349-57 pubmed publisher
    ..This study underscores the importance of comprehensive molecular analysis, including sequencing and targeted array CGH of the SLC25A20 gene when CACT deficiency is suspected. ..
  27. Costa C, Costa J, Slama A, Boutron A, Vequaud C, Legrand A, et al. Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2003;78:68-73 pubmed
    ..Two fetuses were affected and one pregnancy was terminated by family decision. Two other fetuses had normal genotype and five others were heterozygotes. All the offspring of these seven pregnancies are alive and apparently healthy. ..
  28. Porcelli V, Fiermonte G, Longo A, Palmieri F. The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids. J Biol Chem. 2014;289:13374-84 pubmed publisher
    ..The main physiological role of SLC25A29 is to import basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation. ..
  29. Indiveri C, Tonazzi A, Dierks T, Kramer R, Palmieri F. The mitochondrial carnitine carrier: characterization of SH-groups relevant for its transport function. Biochim Biophys Acta. 1992;1140:53-8 pubmed
    ..Modification of the latter led to the induction of the efflux-type of carrier activity characterized by loss of substrate specificity. ..
  30. Lamhonwah A, Tein I. Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria. Biochem Biophys Res Commun. 2006;345:1315-25 pubmed
    ..This suggests an important yet different role for OCTN1 from other OCTN family members in intracellular carnitine homeostasis. ..
  31. Bourdi M, Demady D, Martin J, Jabbour S, Martin B, George J, et al. cDNA cloning and baculovirus expression of the human liver endoplasmic reticulum P58: characterization as a protein disulfide isomerase isoform, but not as a protease or a carnitine acyltransferase. Arch Biochem Biophys. 1995;323:397-403 pubmed
    ..However, it did have protein disulfide isomerase activity, indicating that the physiological activity of human liver P58 may be attributed, at least in part, to this activity. ..
  32. Zammit V, Ramsay R, Bonomini M, Arduini A. Carnitine, mitochondrial function and therapy. Adv Drug Deliv Rev. 2009;61:1353-62 pubmed publisher
    ..between acylcarnitine and acyl-CoA esters established through the enzymatic activities of the family of carnitine acyltransferases. These have different acyl chain-length specificities and intracellular compartment distributions, and ..
  33. Kimura M, Yamaguchi S. [Mitochondrial carnitine acylcarnitine translocase]. Nihon Rinsho. 2002;60 Suppl 4:85-7 pubmed
  34. Palmieri L, Lasorsa F, Vozza A, Agrimi G, Fiermonte G, Runswick M, et al. Identification and functions of new transporters in yeast mitochondria. Biochim Biophys Acta. 2000;1459:363-9 pubmed
    ..Furthermore, the yeast carrier sequences can be used to identify the orthologous proteins in other organisms, including man. ..
  35. Chegary M, te Brinke H, Doolaard M, IJlst L, Wijburg F, Wanders R, et al. Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation. Mol Genet Metab. 2008;93:403-10 pubmed
    ..Therefore, we conclude that in intact cells L-AC inhibits CPT2. Combined with our observation that l-AC does not activate PPAR, we suggest that L-AC is useful to simulate a FAO defect in cells from different origin. ..
  36. Pierre G, MacDonald A, Gray G, Hendriksz C, Preece M, Chakrapani A. Prospective treatment in carnitine-acylcarnitine translocase deficiency. J Inherit Metab Dis. 2007;30:815 pubmed
    ..Fatty acid oxidation studies confirmed the diagnosis. To date he has normal development and has not had any significant periods of hypoglycaemia or hyperammonaemia. ..
  37. Ferdinandusse S, Mulders J, Ijlst L, Denis S, Dacremont G, Waterham H, et al. Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids. Biochem Biophys Res Commun. 1999;263:213-8 pubmed
    ..Our results shed new light on the function of COT in fatty acid metabolism and point to a crucial role of COT in the beta-oxidation of branched-chain fatty acids. ..
  38. Pande S. Carnitine-acylcarnitine translocase deficiency. Am J Med Sci. 1999;318:22-7 pubmed
    ..In one such case genetic counseling was made possible even when the only specimen available from a deceased sibling was the Guthrie card. ..
  39. Wolfgang M, Kurama T, Dai Y, Suwa A, Asaumi M, Matsumoto S, et al. The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis. Proc Natl Acad Sci U S A. 2006;103:7282-7 pubmed
    ..These findings indicate that CPT1c is necessary for the regulation of energy homeostasis. ..
  40. Britton L, Jaskowski L, Bridle K, Santrampurwala N, Reiling J, Musgrave N, et al. Heterozygous Hfe gene deletion leads to impaired glucose homeostasis, but not liver injury in mice fed a high-calorie diet. Physiol Rep. 2016;4: pubmed publisher
    ..However, unlike homozygous Hfe deletion, heterozygous gene deletion did not affect lipid metabolism pathways or liver injury in this model. ..
  41. Pacilli A, Calienni M, Margarucci S, D Apolito M, Petillo O, Rocchi L, et al. Carnitine-acyltransferase system inhibition, cancer cell death, and prevention of myc-induced lymphomagenesis. J Natl Cancer Inst. 2013;105:489-98 pubmed publisher
    ..25, 95% confidence interval of difference = 14% to 70%; P = .01). Our data indicate that it is possible to tackle c-myc-driven tumorigenesis by altering lipid metabolism and exploiting the neoplastic cell addiction to FA oxidation. ..
  42. Bonnet D, Martin D, Pascale De Lonlay -, Villain E, Jouvet P, Rabier D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100:2248-53 pubmed
    ..They may present as isolated cardiomyopathy, sudden death, progressive skeletal myopathy, or hepatic failure. Arrhythmia is an unusual presenting symptom of fatty acid oxidation deficiencies...
  43. Sekoguchi E, Sato N, Yasui A, Fukada S, Nimura Y, Aburatani H, et al. A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting. J Biol Chem. 2003;278:38796-802 pubmed
    ..Thus, CACL may play an important role cooperatively with its homologue CACT in a stress-induced change of lipid metabolism, and may be specialized for the metabolism of a distinct class of fatty acids involved in brain function. ..
  44. Le Borgne F, Ben Mohamed A, Logerot M, Garnier E, Demarquoy J. Changes in carnitine octanoyltransferase activity induce alteration in fatty acid metabolism. Biochem Biophys Res Commun. 2011;409:699-704 pubmed publisher
    ..Conversely, a decrease in CROT activity had the opposite effect. These results suggest that CROT activity, by controlling the peroxisomal amount of medium chain acyls, may control the peroxisomal oxidative pathway. ..
  45. Calabrese V, Giuffrida Stella A, Calvani M, Butterfield D. Acetylcarnitine and cellular stress response: roles in nutritional redox homeostasis and regulation of longevity genes. J Nutr Biochem. 2006;17:73-88 pubmed
  46. Waldner R, Laschan C, Lohninger A, Gessner M, Tüchler H, Huemer M, et al. Effects of doxorubicin-containing chemotherapy and a combination with L-carnitine on oxidative metabolism in patients with non-Hodgkin lymphoma. J Cancer Res Clin Oncol. 2006;132:121-8 pubmed
    ..The plasma lipid profile and relative mRNA levels of key enzymes of oxidative metabolism (carnitine acyltransferases) were measured at three points of time...
  47. Stanley C, Hale D, Berry G, Deleeuw S, Boxer J, Bonnefont J. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med. 1992;327:19-23 pubmed
  48. Lee R, Lam C, Lai C, Yuen Y, Chan K, Shek C, et al. Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. Hong Kong Med J. 2007;13:66-8 pubmed
  49. Gutgesell A, Wen G, König B, Koch A, Spielmann J, Stangl G, et al. Mouse carnitine-acylcarnitine translocase (CACT) is transcriptionally regulated by PPARalpha and PPARdelta in liver cells. Biochim Biophys Acta. 2009;1790:1206-16 pubmed publisher
    ..The upregulation of CACT by PPARalpha and PPARdelta, which are both important for the regulation of fatty acid oxidation in tissues during fasting, may increase the import of acylcarnitine into the mitochondrial matrix during fasting. ..
  50. Morillas M, Gomez Puertas P, Rubi B, Clotet J, Arino J, Valencia A, et al. Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain. J Biol Chem. 2002;277:11473-80 pubmed
    ..Other malonyl-CoA non-inhibitable members of the family, CPT II and carnitine acetyltransferase, do not contain this domain. ..
  51. Choi S, Oh D, Song C, Roy A, Chatterjee B. Molecular cloning and sequence analysis of the rat liver carnitine octanoyltransferase cDNA, its natural gene and the gene promoter. Biochim Biophys Acta. 1995;1264:215-22 pubmed
    ..Potential regulatory elements, such as several palindromes and repeat motifs for five different sequence segments, are also identified. ..
  52. Roschinger W, Muntau A, Duran M, Dorland L, Ijlst L, Wanders R, et al. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. Clin Chim Acta. 2000;298:55-68 pubmed
  53. Parini R, Invernizzi F, Menni F, Garavaglia B, Melotti D, Rimoldi M, et al. Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. J Inherit Metab Dis. 1999;22:733-9 pubmed
    ..Careful adjustment of dietetic treatment may help to improve prognosis. ..
  54. Costa C, Costa J, Nuoffer J, Slama A, Boutron A, Saudubray J, et al. Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. J Inherit Metab Dis. 1999;22:267-70 pubmed
  55. Pochini L, Galluccio M, Scumaci D, Giangregorio N, Tonazzi A, Palmieri F, et al. Interaction of beta-lactam antibiotics with the mitochondrial carnitine/acylcarnitine transporter. Chem Biol Interact. 2008;173:187-94 pubmed publisher
    ..The most effective among the tested antibiotics was cefonicid with IC50 of 0.12 mM after 60 h of incubation. The possible in vivo implications of the interaction of the beta-lactam antibiotics with the transporter are discussed. ..
  56. Hsu B, Iacobazzi V, Wang Z, Harvie H, Chalmers R, Saudubray J, et al. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2001;74:248-55 pubmed
    ..These results confirm that CACT is the genetic locus of the recessive mutations responsible for the fatal defects of fatty acid metabolism previously associated with deficiency of translocase activity in these three cases. ..
  57. Tonazzi A, Console L, Giangregorio N, Indiveri C, Palmieri F. Identification by site-directed mutagenesis of a hydrophobic binding site of the mitochondrial carnitine/acylcarnitine carrier involved in the interaction with acyl groups. Biochim Biophys Acta. 2012;1817:697-704 pubmed publisher
    ..Variations of Ki of mutants for acylcarnitines reflected variations of the inhibition profiles. The data demonstrated that V25, P78, V82, M85 and C89 are involved in the acyl chain binding to the CAC in c-state. ..
  58. Hara H. [Dilated cardiomyopathy]. Nihon Rinsho. 2004;62 Suppl 5:536-9 pubmed
  59. Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri F. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet. 1997;79:62-3 pubmed
  60. Cronin C. cDNA cloning, recombinant expression, and site-directed mutagenesis of bovine liver carnitine octanoyltransferase--Arg505 binds the carboxylate group of carnitine. Eur J Biochem. 1997;247:1029-37 pubmed
    ..These data support the notion that Arg505 in COT, and other carnitine acyltransferases, contributes to substrate binding by forming a salt bridge with the carboxylate moiety of carnitine.
  61. Peluso G, Petillo O, Margarucci S, Grippo P, Melone M, Tuccillo F, et al. Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells. J Cell Physiol. 2005;203:439-46 pubmed
  62. Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, et al. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. J Hum Genet. 2013;58:788-93 pubmed publisher
    ..576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. Among the five mutations identified, three were responsible for CACT deficiency. We have also demonstrated the successful screening of CACT mutations by DHPLC. ..
  63. Miyazawa S, Ozasa H, Osumi T, Hashimoto T. Purification and properties of carnitine octanoyltransferase and carnitine palmitoyltransferase from rat liver. J Biochem. 1983;94:529-42 pubmed
    ..2-Bromo-palmitoyl-CoA inactivated COT but not CPT. Malonyl-CoA inhibited CPT but not COT. CPT was confined to mitochondria, whereas COT was found in peroxisomes and the soluble compartment but not in mitochondria. ..
  64. Van der Vusse G, Dubelaar M, Coumans W, Seymour A, Clarke S, Bonen A, et al. Metabolic alterations in the chronically denervated dog heart. Cardiovasc Res. 1998;37:160-70 pubmed
    ..It is unlikely that the decrease in work efficiency is caused by alterations in mitochondrial properties. ..
  65. Porter R. Mammalian mitochondrial inner membrane cationic and neutral amino acid carriers. Biochim Biophys Acta. 2000;1459:356-62 pubmed
  66. Broadway N, Pease R, Birdsey G, Turner N, Shayeghi M, Saggerson E. Microsomal malonyl-CoA-sensitive carnitine acyltransferase. Biochem Soc Trans. 2001;29:267-71 pubmed
    ..However, no experiments using cDNAs corresponding to CPT-1 involving in vitro translation with microsomes or involving in vivo COS-1 cell transfection provided any evidence to support this hypothesis. ..
  67. Christian M, Kiskinis E, Debevec D, Leonardsson G, White R, Parker M. RIP140-targeted repression of gene expression in adipocytes. Mol Cell Biol. 2005;25:9383-91 pubmed
    ..Therefore, reduction in the levels of RIP140 or prevention of its recruitment to nuclear receptors may provide novel mechanisms for the control of energy expenditure in adipose cells. ..
  68. Tang X, McFarland K, Cagle S, Kalivas P. Cocaine-induced reinstatement requires endogenous stimulation of mu-opioid receptors in the ventral pallidum. J Neurosci. 2005;25:4512-20 pubmed
  69. Lam C, Lai C, Chow C, Tong S, Yuen Y, Mak Y, et al. Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death. Chin Med J (Engl). 2003;116:1110-2 pubmed
  70. Giangregorio N, Tonazzi A, Console L, Indiveri C, Palmieri F. Site-directed mutagenesis of charged amino acids of the human mitochondrial carnitine/acylcarnitine carrier: insight into the molecular mechanism of transport. Biochim Biophys Acta. 2010;1797:839-45 pubmed publisher
    ..Furthermore, Lys-35 and Glu-132, which are very probably involved in the salt-bridge network located at the bottom of the cavity, play a major role in opening and closing the matrix gate. ..
  71. Tonazzi A, Mantovani C, Colella M, Terenghi G, Indiveri C. Localization of mitochondrial carnitine/acylcarnitine translocase in sensory neurons from rat dorsal root ganglia. Neurochem Res. 2013;38:2535-41 pubmed publisher
    ..The experimental data here reported represent the first direct evidence of the expression of the carnitine/acylcarnitine transporter in sensory neurons, thus supporting the existence of the ?-oxidation pathway in these cells. ..
  72. Mizukuchi A, Umeda Sawada R, Igarashi O. Effect of dietary fat level and sesamin on the polyunsaturated fatty acid metabolism in rats. J Nutr Sci Vitaminol (Tokyo). 2003;49:320-6 pubmed
    ..These results suggest that sesamin suppressed the increase of hepatic PUFA concentration caused by feeding the high-fat diet through enhancing the enzyme activities of fatty acid beta-oxidation and PUFA metabolism from LA and ALA. ..
  73. Perez P, Martinez O, Romero B, Olivas I, Pedregosa A, Palmieri F, et al. Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans. Fungal Genet Biol. 2003;39:211-20 pubmed
  74. Al Aqeel A, Rashid M, Ruiter J, Ijlst L, Wanders R. A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. Clin Genet. 2003;64:163-5 pubmed
  75. Violante S, IJlst L, te Brinke H, Tavares de Almeida I, Wanders R, Ventura F, et al. Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines. FASEB J. 2013;27:2039-44 pubmed publisher
    ..This shows that CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mFAOD. ..
  76. Al Sannaa N, Cheriyan G. Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. Saudi Med J. 2010;31:931-4 pubmed
    ..He died at 18 months of age as a result of metabolic decompensation. This suggests that CACT deficiency is still a lethal disorder even with an early and aggressive medical intervention. ..
  77. Rubio Gozalbo M, Bakker J, Waterham H, Wanders R. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects Med. 2004;25:521-32 pubmed
    ..Subsequently, mutational analysis of the CACT gene can be performed. So far, 9 different mutations have been identified in the CACT gene. ..
  78. Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, et al. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A. 2004;126A:150-5 pubmed
    ..These results suggest that carnitine and MCT may be effective in treating this defect of long-chain fatty acid oxidation. ..
  79. Demizieux L, Degrace P, Gresti J, Loreau O, Noël J, Chardigny J, et al. Conjugated linoleic acid isomers in mitochondria: evidence for an alteration of fatty acid oxidation. J Lipid Res. 2002;43:2112-22 pubmed
    ..Therefore, the CLA studied appeared to be both poorly oxidizable and capable of interfering with the oxidation of usual FA at a step close to the beginning of the beta-oxidative cycle. ..
  80. Swiegers J, Dippenaar N, Pretorius I, Bauer F. Carnitine-dependent metabolic activities in Saccharomyces cerevisiae: three carnitine acetyltransferases are essential in a carnitine-dependent strain. Yeast. 2001;18:585-95 pubmed
  81. York B, Reineke E, Sagen J, Nikolai B, Zhou S, Louet J, et al. Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy. Cell Metab. 2012;15:752-63 pubmed publisher
    ..Moreover, these findings allow us to consider platform coactivators such as the SRCs as potential contributors to syndromes such as CACT deficiency, previously considered as monogenic. ..
  82. Tang L, Bai L, Wang W, Jiang T. Crystal structure of the carnitine transporter and insights into the antiport mechanism. Nat Struct Mol Biol. 2010;17:492-6 pubmed publisher
  83. Kimura M, Yamaguchi S. [Carnitine acylcarnitine translocase deficiency]. Nihon Rinsho. 2002;60 Suppl 4:714-6 pubmed
  84. Priore P, Stanca E, Gnoni G, Siculella L. Dietary fat types differently modulate the activity and expression of mitochondrial carnitine/acylcarnitine translocase in rat liver. Biochim Biophys Acta. 2012;1821:1341-9 pubmed publisher
    ..e. modulating its expression at transcriptional and post-transcriptional levels, respectively. ..
  85. Wiley V, Carpenter K, Bayliss U, Wilcken B. Newborn screening--is it really that simple?. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:107-10 pubmed
    ..MSMS has shown a sensitivity of 95.9% and specificity of 99.8% in our laboratory with a positive predictive value of 18%. ..