Gene Symbol: TOMM40
Description: translocase of outer mitochondrial membrane 40
Alias: C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40, mitochondrial import receptor subunit TOM40 homolog, mitochondrial outer membrane protein, p38.5, protein Haymaker, translocase of outer membrane 40 kDa subunit homolog, translocase of outer mitochondrial membrane 40 homolog
Species: human
Products:     TOMM40

Top Publications

  1. Bekris L, Millard S, Galloway N, Vuletic S, Albers J, Li G, et al. Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels. J Alzheimers Dis. 2008;13:255-66 pubmed
    ..APOE epsilon4 genotype does not predict CSF apoE levels. Three SNPs within the TOMM40 gene, one APOE promoter SNP and two SNPs within distal APOE enhancer elements (ME1 and BCR) predict CSF apoE ..
  2. Hayden K, McEvoy J, Linnertz C, Attix D, Kuchibhatla M, Saunders A, et al. A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging. Alzheimers Dement. 2012;8:381-8 pubmed publisher
    ..Saliva samples were collected for determination of the TOMM40 '523' (S, L, VL) and the apolipoprotein E (APOE) (?2, 3, 4) genotypes...
  3. Lyall D, Harris S, Bastin M, Muñoz Maniega S, Murray C, Lutz M, et al. Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936. Neurobiol Aging. 2014;35:1513.e25-33 pubmed publisher
    ..g., age of onset). In the TOMM40 gene, the rs10524523 ("523") variable length poly-T repeat polymorphism has more recently been ..
  4. Johnson S, La Rue A, Hermann B, Xu G, Koscik R, Jonaitis E, et al. The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ?3/?3 genotype. Alzheimers Dement. 2011;7:456-65 pubmed publisher
    ..poly-T length polymorphism at rs10524523, within intron 6 of the translocase of the outer mitochondrial membrane (TOMM40) gene, has been shown to influence age of onset in LOAD, with very long (VL) poly-T length associated with earlier ..
  5. Han M, Schellenberg G, Wang L. Genome-wide association reveals genetic effects on human A?42 and ? protein levels in cerebrospinal fluids: a case control study. BMC Neurol. 2010;10:90 pubmed publisher
    ..Our genome-wide association analysis identified several SNPs as important factors for CSF biomarker. We also provide new evidence for additional candidate genetic risk factors from pathway analysis that can be tested in further studies. ..
  6. Feulner T, Laws S, Friedrich P, Wagenpfeil S, Wurst S, Riehle C, et al. Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry. 2010;15:756-66 pubmed publisher
    ..Finally, our data confirm that GWAS, regardless of the platform, are valuable for the identification of genetic variants associated with AD. ..
  7. Ma L, Yang J, Runesha H, Tanaka T, Ferrucci L, Bandinelli S, et al. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. BMC Med Genet. 2010;11:55 pubmed publisher
  8. Lambert J, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009;41:1094-9 pubmed publisher
    ..Previous biological studies support roles of CLU and CR1 in the clearance of beta amyloid (Abeta) peptide, the principal constituent of amyloid plaques, which are one of the major brain lesions of individuals with Alzheimer's disease. ..
  9. Deelen J, Beekman M, Uh H, Helmer Q, Kuningas M, Christiansen L, et al. Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. Aging Cell. 2011;10:686-98 pubmed publisher
    ..71 (95% CI 0.65-0.77), P=3.39 × 10(-17) ]. This SNP, rs2075650, is located in TOMM40 at chromosome 19q13.32 close to the apolipoprotein E (APOE) gene...

More Information


  1. Abraham R, Moskvina V, Sims R, Hollingworth P, Morgan A, Georgieva L, et al. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics. 2008;1:44 pubmed publisher
    ..We provide evidence for LRAT as a novel candidate gene for LOAD. LRAT plays a prominent role in the Vitamin A cascade, a system that has been previously implicated in LOAD. ..
  2. Shen L, Kim S, Risacher S, Nho K, Swaminathan S, West J, et al. Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Neuroimage. 2010;53:1051-63 pubmed publisher
    ..As expected, SNPs in the APOE and TOMM40 genes were confirmed as markers strongly associated with multiple brain regions...
  3. Middelberg R, Ferreira M, Henders A, Heath A, Madden P, Montgomery G, et al. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. BMC Med Genet. 2011;12:123 pubmed publisher
    ..These are located on chromosome 8 (LPL gene affecting HDL and triglycerides) and chromosome 19 (TOMM40/APOE-C1-C2-C4 gene cluster affecting LDL and CRP)...
  4. Bruno D, Pomara N, Nierenberg J, Ritchie J, Lutz M, Zetterberg H, et al. Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants. Exp Gerontol. 2012;47:347-52 pubmed publisher
    ..We examined whether TOMM40 variants, which have been reported to influence age of onset of AD and are in linkage disequilibrium with APOE, ..
  5. Davies G, Harris S, Reynolds C, Payton A, Knight H, Liewald D, et al. A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing. Mol Psychiatry. 2014;19:76-87 pubmed publisher
    ..One SNP--rs2075650, located in TOMM40 (translocase of the outer mitochondrial membrane 40 homolog)--had a genome-wide significant association with ..
  6. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere M, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009;41:1088-93 pubmed publisher
    ..5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86). ..
  7. Mastaglia F, Rojana udomsart A, James I, Needham M, Day T, Kiers L, et al. Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms. Neuromuscul Disord. 2013;23:969-74 pubmed publisher
    A polyT repeat in an intronic polymorphism (rs10524523) in the TOMM40 gene, which encodes an outer mitochondrial membrane translocase involved in the transport of amyloid-? and other proteins into mitochondria, has been implicated in ..
  8. Seshadri S, Fitzpatrick A, Ikram M, Destefano A, Gudnason V, Boada M, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010;303:1832-40 pubmed publisher
    ..Two recently reported associations were also confirmed. These loci did not improve AD risk prediction. While not clinically useful, they may implicate biological pathways useful for future research. ..
  9. Potkin S, Guffanti G, Lakatos A, Turner J, Kruggel F, Fallon J, et al. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS ONE. 2009;4:e6501 pubmed publisher
    ..The case-control analysis identified APOE and a new risk gene, TOMM40 (translocase of outer mitochondrial membrane 40), at a genome-wide significance level of < or =10(-6) (10(-11) ..
  10. Antunez C, Boada M, Gonzalez Perez A, Gayan J, Ramirez Lorca R, Marin J, et al. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. Genome Med. 2011;3:33 pubmed publisher
    ..40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls). Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases. ..
  11. Ma X, Yu J, Wang W, Wang H, Liu Q, Zhang W, et al. Association of TOMM40 polymorphisms with late-onset Alzheimer's disease in a Northern Han Chinese population. Neuromolecular Med. 2013;15:279-87 pubmed publisher
    ..One interesting candidate gene for mitochondrial dysfunction in LOAD is the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene...
  12. Roses A, Lutz M, Amrine Madsen H, Saunders A, Crenshaw D, Sundseth S, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J. 2010;10:375-84 pubmed publisher
    ..phylogenetic analysis, we have identified a polymorphic poly-T variant, rs10524523, in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene that provides greatly increased precision in the estimation of age of LOAD ..
  13. Bekris L, Lutz F, Yu C. Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE. J Hum Genet. 2012;57:18-25 pubmed publisher
    ..Luciferase reporter constructs containing haplotypes of APOE locus gene promoters; APOE, APOC1 and TOMM40, and regional putative enhancers; TOMM40 intervening sequence (IVS)2-4, TOMM40 IVS6 poly-T, as well as previously ..
  14. Bruno D, Nierenberg J, Ritchie J, Lutz M, Pomara N. Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants. Psychoneuroendocrinology. 2012;37:366-71 pubmed publisher
    ..In this study, we examined whether TOMM40 variants, which have been reported to influence age of onset of AD, also had an effect on CSF cortisol levels, in ..
  15. Cruchaga C, Nowotny P, Kauwe J, Ridge P, Mayo K, Bertelsen S, et al. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch Neurol. 2011;68:1013-9 pubmed publisher
    ..To attempt to replicate a recently reported association of APOE 3-TOMM40 haplotypes with risk and age at onset...
  16. Naj A, Beecham G, Martin E, Gallins P, Powell E, Konidari I, et al. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet. 2010;6:e1001130 pubmed publisher
    ..This finding is noteworthy, as MTHFD1L may play a role in the generation of methionine from homocysteine and influence homocysteine-related pathways and as levels of homocysteine are a significant risk factor for LOAD development. ..
  17. Reiner A, Barber M, Guan Y, Ridker P, Lange L, Chasman D, et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet. 2008;82:1193-201 pubmed publisher
  18. Caselli R, Dueck A, Huentelman M, Lutz M, Saunders A, Reiman E, et al. Longitudinal modeling of cognitive aging and the TOMM40 effect. Alzheimers Dement. 2012;8:490-5 pubmed publisher
    b>TOMM40 (translocase of the outer mitochondrial membrane pore subunit) is in linkage disequilibrium with apolipoprotein E (APOE)...
  19. Hedskog L, Brohede J, Wiehager B, Pinho C, Revathikumar P, Lilius L, et al. Biochemical studies of poly-T variants in the Alzheimer's disease associated TOMM40 gene. J Alzheimers Dis. 2012;31:527-36 pubmed publisher
    ..Recently the gene, TOMM40, which is in linkage disequilibrium with APOE, was identified to be associated with LOAD in genome-wide ..
  20. Holliday E, Smith A, Cornes B, Buitendijk G, Jensen R, Sim X, et al. Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS ONE. 2013;8:e53830 pubmed publisher
  21. Chu S, Roeder K, Ferrell R, Devlin B, Demichele Sweet M, Kamboh M, et al. TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. Neurobiol Aging. 2011;32:2328.e1-9 pubmed publisher
    ..region in a small sample of LOAD subjects identified a variable length poly-T repeat sequence in the nearby gene, TOMM40, which may affect age of onset...
  22. Heinzen E, Need A, Hayden K, Chiba Falek O, Roses A, Strittmatter W, et al. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis. 2010;19:69-77 pubmed publisher
    ..In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation. ..
  23. Humphries A, Streimann I, Stojanovski D, Johnston A, Yano M, Hoogenraad N, et al. Dissection of the mitochondrial import and assembly pathway for human Tom40. J Biol Chem. 2005;280:11535-43 pubmed
    b>Tom40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM complex), essential for protein import into mitochondria...
  24. Kim S, Swaminathan S, Shen L, Risacher S, Nho K, Foroud T, et al. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology. 2011;76:69-79 pubmed publisher
    ..Four SNPs in the regions of the APOE, LOC100129500, TOMM40, and EPC2 genes reached genome-wide significance for associations with one or more CSF biomarkers...
  25. Linnertz C, Saunders A, Lutz M, Crenshaw D, Grossman I, Burns D, et al. Characterization of the poly-T variant in the TOMM40 gene in diverse populations. PLoS ONE. 2012;7:e30994 pubmed publisher
    We previously discovered that a polymorphic, deoxythymidine-homopolymer (poly-T, rs10524523) in intron 6 of the TOMM40 gene is associated with age-of-onset of Alzheimer's disease and with cognitive performance in elderly...
  26. Chong M, Goh L, Lim W, Chan M, Tay L, Chen G, et al. Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease. J Alzheimers Dis. 2013;34:399-405 pubmed publisher
    We previously reported TOMM40 was significantly down-regulated in whole blood of Alzheimer's disease (AD) subjects...
  27. Li G, Bekris L, Leong L, Steinbart E, Shofer J, Crane P, et al. TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3. Alzheimers Dement. 2013;9:554-61 pubmed publisher
    This study investigates the association between TOMM40 poly-T length, age at onset, and neuropathology in individuals with Alzheimer's disease (AD) with the apolipoprotein E (APOE) ε3/ε3 allele...
  28. Freitas E, Zhang W, Lalonde J, Tay G, Gaudieri S, Ashworth L, et al. Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1. DNA Seq. 1998;9:89-100 pubmed
    Through the sequencing of a 42kb cosmid clone we describe a new gene, designated PEREC1, located approximately 1.5kb centromeric of the human apolipoprotein (APO) E-C2 cluster...
  29. Seripa D, Bizzarro A, Pilotto A, Palmieri O, Panza F, D Onofrio G, et al. TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia. J Alzheimers Dis. 2012;31:731-40 pubmed publisher
    ..To this aim, we selected three single-nucleotide polymorphisms (SNPs) rs2075650 and rs157590 (TOMM40), and rs1064725 (APOC1), representative of the linkage disequilibrium (LD) blocks at the 19q13-q13...
  30. Kuszak A, Jacobs D, Gurnev P, Shiota T, Louis J, Lithgow T, et al. Evidence of Distinct Channel Conformations and Substrate Binding Affinities for the Mitochondrial Outer Membrane Protein Translocase Pore Tom40. J Biol Chem. 2015;290:26204-17 pubmed publisher
    ..b>Tom40 is the central subunit of the translocase complex and forms a pore in the mitochondrial outer membrane...
  31. Wojtkowska M, Buczek D, Stobienia O, Karachitos A, Antoniewicz M, Slocinska M, et al. The TOM Complex of Amoebozoans: the Cases of the Amoeba Acanthamoeba castellanii and the Slime Mold Dictyostelium discoideum. Protist. 2015;166:349-62 pubmed publisher
    ..Our results confirm the presence of Tom70, Tom40 and Tom7 in the A. castellanii and D...
  32. McFarquhar M, Elliott R, McKie S, Thomas E, Downey D, Mekli K, et al. TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. Neuropsychopharmacology. 2014;39:1743-53 pubmed publisher
    ..A novel gene (TOMM40) has been consistently associated with Alzheimer's disease (AD), but has received no attention in depression...
  33. Lien E, Andersen G, Bao Y, Gordish Dressman H, Skranes J, Blackman J, et al. Gene sequences regulating the production of apoE and cerebral palsy of variable severity. Eur J Paediatr Neurol. 2014;18:591-6 pubmed publisher
    ..the GG allele, children with genotype GT or TT in a specific genetic variation (rs59007384 located in the nearby TOMM40 gene) had excess risk for worse fine motor function (Odds ratio (OR): 1.82; 95% Confidence interval (CI): 1.10-2...
  34. Ham S, Lee S, Song S, Chung J, Choi S, Chung J. Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. J Biol Chem. 2016;291:1803-16 pubmed publisher
    ..of Parkin, which depends on phosphorylation at Ser-65, and interaction between the R1 domain and a mitochondrial outer membrane protein, VDAC1, are suppressed by binding of the UBL domain to the R1 domain...
  35. Käser S, Oeljeklaus S, Týc J, Vaughan S, Warscheid B, Schneider A. Outer membrane protein functions as integrator of protein import and DNA inheritance in mitochondria. Proc Natl Acad Sci U S A. 2016;113:E4467-75 pubmed publisher
    ..pATOM36 is a trypanosomatid-specific essential mitochondrial outer membrane protein that has been implicated in protein import...
  36. Campanella M, Turkheimer F. TSPO: functions and applications of a mitochondrial stress response pathway. Biochem Soc Trans. 2015;43:593-4 pubmed publisher
    The mitochondrial outer membrane protein TSPO (translocator protein) lies in a privileged position at the interface between mitochondrion and cytosol...
  37. Lin R, Zhang Y, Yan D, Liao X, Gong G, Hu J, et al. Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population. J Hum Genet. 2016;61:323-8 pubmed publisher
    Apolipoprotein E (APOE), translocase of outer mitochondrial membrane 40 homolog (TOMM40) and apolipoprotein C-I (APOC1) may extend lifespan by marked delay or escape from age-related diseases...
  38. Johnston A, Hoogenraad J, Dougan D, Truscott K, Yano M, Mori M, et al. Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane. J Biol Chem. 2002;277:42197-204 pubmed
    ..We found that the 120-kDa complex contains Tom40 and lacks receptor components...
  39. Kawalec M, Boratyńska Jasińska A, Beręsewicz M, Dymkowska D, Zabłocki K, Zabłocka B. Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells. PLoS ONE. 2015;10:e0134162 pubmed publisher
    Mitofusin 2 (Mfn2), mitochondrial outer membrane protein which is involved in rearrangement of these organelles, was first described in pathology of hypertension and diabetes, and more recently much attention is paid to its functions in ..
  40. Lin C, Lin E, Lane H. Genetic Biomarkers on Age-Related Cognitive Decline. Front Psychiatry. 2017;8:247 pubmed publisher
    ..single-nucleotide polymorphisms (SNPs) within the ADAMTS9, BDNF, CASS4, COMT, CR1, DNMT3A, DTNBP1, REST, SRR, TOMM40, circadian clock, and Alzheimer's diseases-associated genes may contribute to susceptibility to cognitive ..
  41. Yamase Y, Horibe H, Ueyama C, Fujimaki T, Oguri M, Kato K, et al. Association of TOMM40 and SLC22A4 polymorphisms with ischemic stroke. Biomed Rep. 2015;3:491-498 pubmed
    ..0471), rs2075650 (G→A) of the translocase of outer mitochondrial membrane 40 homolog gene (TOMM40, P=0...
  42. Magrì A, Di Rosa M, Tomasello M, Guarino F, Reina S, Messina A, et al. Overexpression of human SOD1 in VDAC1-less yeast restores mitochondrial functionality modulating beta-barrel outer membrane protein genes. Biochim Biophys Acta. 2016;1857:789-98 pubmed publisher
    ..Quantitative Real-Time PCR showed that β-barrel outer-membrane encoding-genes por2, tom40, sam50 are induced by hSOD1, but the same effect was not obtained in Δpor1Δpor2 yeast, indicating a ..
  43. Li L, Kubiszewski Jakubiak S, Radomiljac J, Wang Y, Law S, Keech O, et al. Characterization of a novel ?-barrel protein (AtOM47) from the mitochondrial outer membrane of Arabidopsis thaliana. J Exp Bot. 2016;67:6061-6075 pubmed
    ..had no effect on the import of proteins, such as the ?-barrel proteins translocase of the outer membrane 40 (TOM40) or sorting and assembly machinery 50 (SAM50), into mitochondria...
  44. Shao Y, Shaw M, Todd K, Khrestian M, D Aleo G, Barnard P, et al. DNA methylation of TOMM40-APOE-APOC2 in Alzheimer's disease. J Hum Genet. 2018;63:459-471 pubmed publisher
    ..Multiple regulatory elements, spanning the extended TOMM40-APOE-APOC2 region, regulate gene expression at this locus...
  45. Mani J, Rout S, Desy S, Schneider A. Mitochondrial protein import - Functional analysis of the highly diverged Tom22 orthologue of Trypanosoma brucei. Sci Rep. 2017;7:40738 pubmed publisher
    The β-barrel protein Tom40 and the α-helically anchored membrane protein Tom22 are the only universally conserved subunits of the protein translocase of the mitochondrial outer membrane (TOM)...
  46. Landry A, Wang Y, Cheng Z, Crochet R, Lee Y, Ding H. Flavin nucleotides act as electron shuttles mediating reduction of the [2Fe-2S] clusters in mitochondrial outer membrane protein mitoNEET. Free Radic Biol Med. 2017;102:240-247 pubmed publisher
    ..The results suggest that flavin nucleotides may act as electron shuttles to reduce the mitoNEET [2Fe-2S] clusters and regulate mitochondrial functions in human cells. ..
  47. De Jager P, Shulman J, Chibnik L, Keenan B, Raj T, Wilson R, et al. A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Neurobiol Aging. 2012;33:1017.e1-15 pubmed publisher
  48. Du K, Ramachandran A, McGill M, Mansouri A, Asselah T, Farhood A, et al. Induction of mitochondrial biogenesis protects against acetaminophen hepatotoxicity. Food Chem Toxicol. 2017;108:339-350 pubmed publisher
    ..Immunofluorescent staining of mitochondria with mitochondrial outer membrane protein Tom20 further demonstrated that MB occurs selectively in hepatocytes surrounding necrotic areas...
  49. Ramanan V, Risacher S, Nho K, Kim S, Swaminathan S, Shen L, et al. APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Mol Psychiatry. 2014;19:351-7 pubmed publisher
    ..BCHE has been found in senile plaques and this new association of genetic variation at the BCHE locus with Aβ burden in humans may have implications for potential disease-modifying effects of BCHE-modulating agents in the AD spectrum. ..
  50. Gao Z, Li Y, Wang F, Huang T, Fan K, Zhang Y, et al. Mitochondrial dynamics controls anti-tumour innate immunity by regulating CHIP-IRF1 axis stability. Nat Commun. 2017;8:1805 pubmed publisher
    ..Here we show that FAM73b, a mitochondrial outer membrane protein, has a pivotal function in Toll-like receptor-regulated mitochondrial morphology switching from ..
  51. Lien E, Andersen G, Bao Y, Gordish Dressman H, Skranes J, Blackman J, et al. Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E. Acta Paediatr. 2015;104:701-6 pubmed publisher
    ..We previously reported that specific single nucleotide polymorphisms in the APOE or TOMM40 genes affecting the structure and production of apoE were associated with epilepsy, more impaired hand function ..
  52. Bernardi L, Gallo M, Anfossi M, Conidi M, Colao R, Puccio G, et al. Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation. J Alzheimers Dis. 2013;37:285-9 pubmed publisher
    We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not ..
  53. Nishimura A, Nonomura H, Tanaka S, Yoshida M, Maruyama Y, Aritomi Y, et al. Characterization of APOE and TOMM40 allele frequencies in the Japanese population. Alzheimers Dement (N Y). 2017;3:524-530 pubmed publisher
    ..E (APOE) genotype and a polymorphism (rs10524523) in the translocase of outer mitochondrial membrane 40 (TOMM40) gene have been associated with the age of onset of AD...
  54. Pomara N, Bruno D, Sidtis J, Lutz M, Greenblatt D, Saunders A, et al. Translocase of outer mitochondrial membrane 40 homolog (TOMM40) poly-T length modulates lorazepam-related cognitive toxicity in healthy APOE ?4-negative elderly. J Clin Psychopharmacol. 2011;31:544-6 pubmed publisher
  55. Jin G, Xu C, Zhang X, Long J, Rezaeian A, Liu C, et al. Atad3a suppresses Pink1-dependent mitophagy to maintain homeostasis of hematopoietic progenitor cells. Nat Immunol. 2018;19:29-40 pubmed publisher
    ..Mechanistically, Atad3a interacted with the mitochondrial channel components Tom40 and Tim23 and served as a bridging factor to facilitate appropriate transportation and processing of the mitophagy ..
  56. Larsen P, Lutz M, Hunnicutt K, Mihovilovic M, Saunders A, Yoder A, et al. The Alu neurodegeneration hypothesis: A primate-specific mechanism for neuronal transcription noise, mitochondrial dysfunction, and manifestation of neurodegenerative disease. Alzheimers Dement. 2017;13:828-838 pubmed publisher
    ..An example is observed in the TOMM40 gene, encoding a ?-barrel protein critical for mitochondrial preprotein transport...
  57. Das B, Tao S, Mushnitsky R, Norin A. Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells. Int J Cancer. 2001;94:800-6 pubmed
    ..These experiments suggest that the p38.5 gene (Haymaker) is widely expressed in human cells of different tissue origins but that elevated expression is associated with the malignant phenotype. ..
  58. Kamboh M, Demirci F, Wang X, Minster R, Carrasquillo M, Pankratz V, et al. Genome-wide association study of Alzheimer's disease. Transl Psychiatry. 2012;2:e117 pubmed publisher
    ..43. This is a potential candidate gene for AD as this is expressed in the brain and is involved in lipid metabolism. These findings need to be confirmed in additional samples. ..
  59. Davies G, Armstrong N, Bis J, Bressler J, Chouraki V, Giddaluru S, et al. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). Mol Psychiatry. 2015;20:183-92 pubmed publisher
    ..93 × 10(-9), MIR2113; rs17522122, P=2.55 × 10(-8), AKAP6; rs10119, P=5.67 × 10(-9), APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P=1 × 10(-6))...
  60. He Y, Li C, Yang Y, Li Y, Wang Y, Yang H, et al. Meta-analysis of the rs2075650 polymorphism and risk of Alzheimer disease. Aging Clin Exp Res. 2016;28:805-11 pubmed publisher
    ..We addressed the controversy through performing a meta-analysis of the relationship between rs2075650 in TOMM40 (translocase of outer mitochondrial membrane 40 homologue) and Alzheimer disease...
  61. Peplonska B, Safranow K, Gaweda Walerych K, Maruszak A, Czyzewski K, Rudzinska M, et al. TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors. Neurobiol Aging. 2013;34:2078.e1-2 pubmed publisher
    Polymorphic, deoxythymidine-tract in intron 6 of the TOMM40 gene has been associated with Alzheimer's disease...
  62. Zhou L, He M, Mo Z, Wu C, Yang H, Yu D, et al. A genome wide association study identifies common variants associated with lipid levels in the Chinese population. PLoS ONE. 2013;8:e82420 pubmed publisher
    ..TG were near APOA1/C3/A4/A5 and LPL; those genome wide significantly associated with LDL were near HMGCR, ABO and TOMM40; and those genome wide significantly associated with HDL were near LPL, LIPC and CETP...
  63. Liu X, Zhang Y, Ji S, Zhao L, Shang W, Li D, et al. Mitochondrial Function Regulated by Mitoguardin-1/2 Is Crucial for Ovarian Endocrine Functions and Ovulation. Endocrinology. 2017;158:3988-3999 pubmed publisher
    ..genetic screenings in fruit flies and discovered the mitoguardin gene (Miga) that encodes for a mitochondrial outer membrane protein. To examine the physiological functions of its mammalian homologs Miga1 and Miga2, we generated ..
  64. Liu X, Bai F, Yue C, Shi Y, Yu H, Luo B, et al. The association between TOMM40 gene polymorphism and spontaneous brain activity in amnestic mild cognitive impairment. J Neurol. 2014;261:1499-507 pubmed publisher
    The outer mitochondria membrane 40 homolog (TOMM40) is thought to be involved in the mitochondrial function and to influence the susceptibility for the development of AD...
  65. Greenbaum L, Springer R, Lutz M, Heymann A, Lubitz I, Cooper I, et al. The TOMM40 poly-T rs10524523 variant is associated with cognitive performance among non-demented elderly with type 2 diabetes. Eur Neuropsychopharmacol. 2014;24:1492-9 pubmed publisher
    The variable length poly-T, rs10524523 ('523') located within the TOMM40 gene, was recently associated with several phenotypes of cognitive function...
  66. Suzuki H, Okazawa Y, Komiya T, Saeki K, Mekada E, Kitada S, et al. Characterization of rat TOM40, a central component of the preprotein translocase of the mitochondrial outer membrane. J Biol Chem. 2000;275:37930-6 pubmed
    We cloned a 38-kDa rat mitochondrial outer membrane protein (OM38) with structural homology to the central component of preprotein translocase of the fungal mitochondrial outer membrane, Tom40...
  67. Mise A, Yoshino Y, Yamazaki K, Ozaki Y, Sao T, Yoshida T, et al. TOMM40 and APOE Gene Expression and Cognitive Decline in Japanese Alzheimer's Disease Subjects. J Alzheimers Dis. 2017;60:1107-1117 pubmed publisher
    b>TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD).
  68. Kristiansson K, Perola M, Tikkanen E, Kettunen J, Surakka I, Havulinna A, et al. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. Circ Cardiovasc Genet. 2012;5:242-9 pubmed publisher
    ..We found little evidence for pleiotropy linking dyslipidemia and obesity to the other MetS component traits, such as hypertension and glucose intolerance. ..
  69. Zhang C, Pierce B. Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. Neurobiol Aging. 2014;35:1512.e11-8 pubmed publisher
    ..32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0...
  70. Bausewein T, Mills D, Langer J, Nitschke B, Nussberger S, Kuhlbrandt W. Cryo-EM Structure of the TOM Core Complex from Neurospora crassa. Cell. 2017;170:693-700.e7 pubmed publisher
    ..In the core of the dimer, the ?-barrels of the Tom40 pore form two identical preprotein conduits...
  71. Willette A, Webb J, Lutz M, Bendlin B, Wennberg A, Oh J, et al. Family history and TOMM40 '523 interactive associations with memory in middle-aged and Alzheimer's disease cohorts. Alzheimers Dement. 2017;13:1217-1225 pubmed publisher
    ..mitochondrial function and may modulate effects of translocase of the outer mitochondrial membrane 40 kDa (TOMM40) rs10524523 ('523) poly-T length on memory decline...
  72. Borowsky M, Das B, Axiotis C, Malka E, Abulafia O, Norin A. Haymaker gene expression in malignant and normal gynecologic tissues. J Histochem Cytochem. 2006;54:753-61 pubmed
  73. Lindqvist D, Prokopenko I, Londos E, Middleton L, Hansson O. Associations between TOMM40 Poly-T Repeat Variants and Dementia in Cases with Parkinsonism. J Parkinsons Dis. 2016;6:99-108 pubmed publisher
    ..To investigate the role of the Translocase of the Outer Mitochondrial Membrane 40 homolog (TOMM40) variants in PD without dementia (PDND), PD with dementia (PDD) and in Dementia with Lewy bodies (DLB)...
  74. Rojansky R, Cha M, Chan D. Elimination of paternal mitochondria in mouse embryos occurs through autophagic degradation dependent on PARKIN and MUL1. elife. 2016;5: pubmed publisher
    ..process is associated with depolarization of paternal mitochondria and additionally requires the mitochondrial outer membrane protein FIS1, the autophagy adaptor P62, and PINK1 kinase...