Recombinant Human Mitochondrial import receptor subunit TOM40 homolog (TOMM40)

1. TOM40 over-expression blocked Ab-elicited decreases in the mitochondrial membrane potential, cellular ATP levels, and cellular viability in the control cells. These data suggest elevated expression of TOM40 may be protective of mitochondrial function. PMID: 28768149
2. PPARgamma knockdown resulted in increased levels of TOMM40, APOE and APOC1 -mRNAs, showing the strongest impact on APOE transcript levels. PMID: 28065845
3. Results from this exploratory analysis suggest that regulatory element methylation levels within the larger TOMM40-APOE-APOC2 gene region correlate with AD-related biomarkers and TOMM40 or APOE gene expression in AD. PMID: 29371683
4. This study demonstrated that the association of TOMM40 '523-L with cognitive decline is primarily mediated by common neuropathologies. By contrast, the association of TOMM40 '523-S/S is relatively independent of these pathologies. PMID: 28624335
5. This study found in middle-aged and aged cohorts that FH altered TOMM40 '523 poly-T genotype associations on memory, and additionally in aged participants for both global decline and cognitive impairment risk. PMID: 28549947
6. Our data provide support for TOMM40 variant repeat length as an important contributor to AD-like Medial Temporal Lobe pathology in the absence of APOE epsilon4. PMID: 28183529
7. Survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. The age of disease onset is earlier if APOE4/4 is present in the Colombian population studied. PMID: 27023435
8. report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia. PMID: 28387812
9. Among white women, three single nucleotide polymorphisms (SNPs) (rs2075650 [TOMM40], rs4420638 [APOC1], and rs429358 [APOE]) were significantly associated with survival to 90 years after correction for multiple testing (p < .001); rs4420638 and rs429358 were also significantly associated with healthy aging (p = .02). In African American women, no SNP was associated with longevity. In Hispanic women, 7 SNPs in linkage dise PMID: 27707806
10. Each epsilon4 allele doubled the risk for AD dementia and the dose effect was evident. Almost identical effect size and effect pattern were observed for TOMM40 '523-L PMID: 28672022
11. meta-analysis to investigate the association between rs2075650 polymorphism and Alzheimer's disease (AD) in Asian, Caucasian, and mixed populations; analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations PMID: 27328316
12. Results reveal an association of APOE epsilon3/3-TOMM40'523 haplotypes with cognitive decline in community-based older persons such that the S/S poly-T genotype is related to faster cognitive decline, primarily in the domains of episodic and semantic memory. PMID: 28108637
13. These findings indicated that variants in TOMM40/APOE/APOC1 region might be associated with human longevity. Further studies are needed to identify the causal genetic variants influencing human longevity. PMID: 26657933
14. Our results do not support the notion that TOMM40 poly-T repeat variants have independent effects on Parkinson's disease with dementia and Dementia with Lewy bodies pathology PMID: 26756745
15. rs2075650 polymorphism in TOMM40 gene may increase the risk of Alzheimer disease. PMID: 26572157
16. investigate the influence of the TOMM40 intron 6 poly-T variant (rs10524523) on TOMM40 gene expression and cognitive abilities and decline in a cohort of 1613 community-dwelling elderly volunteers PMID: 26742953
17. rs2075650 at intron region TOMM40 is associated with the A beta-42 levels in CSF. PMID: 26576771
18. No significant effects of APOE epsilon or TOMM40 523 genotypes on white matter hyperintensities or cerebral microbleed burden were found amongst 624 participants PMID: 26310205
19. Epilepsy, impaired fine motor function and gastrostomy tube feeding were less common in cerebral palsy children with single nucleotide polymorphisms in the APOE or TOMM40 genes PMID: 25703783
20. Its variants are related to impairment in allocentric spatial navigation and reduced cortical thickness of specific brain regions among aMCI individuals with (LOAD neutral) APOE epsilon3/epsilon3 genotype. PMID: 25862420
21. TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype epsilon3/epsilon3. PMID: 25670332
22. This study show genome-wide significant SNP-based associations within three genomic regions 6q16.1 (MIR2113), 14q12 (AKAP6/NPAS3 region) and 19q13.32 (TOMM40/APOE region) with cognition. PMID: 25644384
23. Elevated levels of TOMM40 and APOE transcripts found in the brains of late-onset Alzheimer's disease-affected individuals compared with unaffected control brains PMID: 24439168
24. PVRL2, TOMM40 and APOE might be associated with human longevity. PMID: 24924924
25. The results of this study suggested that previous findings of an association of the TOMM40 short allele with better cognitive performance, independently from the APOE variant status, are pertinent to elderly with diabetes. PMID: 25044051
26. Two genetic risk factors for late onset Alzheimer's disease are in the apolipoprotein-e and translocase of outer mitochondrial membrane 40 (TOMM40) gene poly-T repeat loci. PMID: 25247594
27. Influenza A virus protein PB1-F2 translocates into mitochondria via Tom40 channels and impairs innate immunity. PMID: 25140902
28. The findings of this study consistently lower TOMM40 expression on longitudinal 2-year sampling support its potential role as a diagnostic blood AD biomarker. PMID: 25201778
29. The present study shows for the first time that TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity and related to the progression of amnestic mild cognitive impairment. PMID: 24838536
30. study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population. PMID: 25304313
31. It was discovered that polymorphic variants of TOMM40 rs741780, rs1160985, and rs8106922 are associated with serum triglyceride concentrations. PMID: 25711031
32. This study development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. PMID: 24549102
33. It is an Alzheimer-disease susceptibility gene. PMID: 24508314
34. in a large community-dwelling sample of older adults, we found no effects of APOE epsilon or TOMM40 523 genotypes on hippocampal volumes. PMID: 24260406
35. The results of this study suggested that Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms. PMID: 24103330
36. Blockade of mitochondrial protein import triggers the recruitment of PARK2, by PINK1, to the TOMM machinery. PMID: 24149440
37. This study associating theTOMM40rs10524523 genotype with clinical characteristics ofpatients carrying thePSEN1M146L mutation belong-ing to the same kindred. PMID: 23792692
38. TOMM40 intron 6 poly-T length may explain some of the variation in age at onset in PSEN2 familial mouseclick Alzheimer's disease PMID: 23183136
39. These data provide no evidence to support an association of rs2075650 in TOMM40 with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy. PMID: 24146538
40. This study demonstrated that the TOMM40 gene does not have an APOE-independent role in the risk of developing LOAD and FTLD. PMID: 23546992
41. 3 SNPs (rs157580, rs2075650, and rs11556505)were studied in late-onset Alzheimer disease after adjustment for risk factors. Haplotypes derived from SNPs in rs2075650, rs11556505, and rs1160985 were associated with either risk or protective effects. PMID: 23288655
42. the interaction of alpha-Syn with the mitochondrial protein import machinery, in particular Tom40, might be an upstream event in alpha-Syn-induced neurotoxicity. PMID: 23626796
43. TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors. PMID: 23522842
44. TOMM40 gene expression remains significantly lower in Alzheimer's disease patients compared to controls. PMID: 23234877
45. we report data from two independent Caucasian samples (242 U.S. women and men; 466 Danish men) showing that chronic family stress moderates the association between TOMM40 SNP rs157580 and triglyceride levels. PMID: 23435269
46. Three SNPs of TOMM40 and APOC1 representating linkage disequilibrium at the 19q13-q13.2 chromosomal region suggest the presence of a different genetic background underlying primary progressive aphasia and the behavioral variant of frontotemporal dementia. PMID: 22710912
47. Expression levels of TOMM40 protein in mitochondria do not reveal any differences related to the very long or short poly-T variant associated with the risk of late onset Alzheimer's disease. PMID: 22596268
48. Both TOMM40 and APOE significantly influence age-related memory performance, but they appear to do so independently of each other PMID: 23102119
49. The results of this study suggested important APOE-independent associations between the TOMM40 '523' polymorphism and specific cognitive domains of memory and executive control that are preferentially affected in early-stage Alzheimer's disease. PMID: 22863908
50. In chronic hepatitis C, genetic heterogeneity in the APOE/TOMM40 genomic region is significantly associated with variation in serum ApoE and ApoB levels, and also with fibrosis suggesting a pleiotropic attribute of this genomic region. PMID: 22898894

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HGNC: 18001

OMIM: 608061

KEGG: hsa:10452

STRING: 9606.ENSP00000252487

UniGene: Hs.655909