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Translocase of outer mitochondrial membrane 40 homolog (yeast)
Symbols TOMM40 ; C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40
External IDs OMIM608061 MGI1858259 HomoloGene101105 GeneCards: TOMM40 Gene
RNA expression pattern
PBB GE TOMM40 202264 s at tn.png
More reference expression data
Species Human Mouse
Entrez 10452 53333
Ensembl ENSG00000130204 ENSMUSG00000002984
UniProt O96008 Q9QYA2
RefSeq (mRNA) NM_001128916 NM_001109748
RefSeq (protein) NP_001122388 NP_001103218
Location (UCSC) Chr 19:
45.39 – 45.41 Mb
Chr 7:
19.7 – 19.72 Mb
PubMed search [1] [2]

Translocase of outer mitochondrial membrane 40 homolog (yeast), also known as TOMM40, is a protein which in humans is encoded by the TOMM40 gene.[1][2]


TOMM40 codes for a protein that is embedded into outer membranes of mitochondria and is required for the movement of proteins into mitochondria. More precisely, TOMM40 is the channel-forming subunit of a translocase of the mitochondrial outer membrane (TOM) that is essential for protein transport into mitochondria.[3]

Clinical significance[edit]

In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's Disease.[4][5] One study has found that TOMM40 risk alleles appears twice as often in people with Alzheimer's disease than those without it.[6] Because TOMM40 is located on chromosome 19, and is closely adjacent to APOE,[2] another gene known to be associated with Alzheimer's, another study has suggested that the statistically significant correlation of TOMM40 with Alzheimer's is due to linkage disequilibrium.[7][8]


  1. ^ "Entrez Gene: TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)". 
  2. ^ a b Freitas EM, Zhang WJ, Lalonde JP, Tay GK, Gaudieri S, Ashworth LK, Van Bockxmeer FM, Dawkins RL (1998). "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1". DNA Seq. 9 (2): 89–100. doi:10.3109/10425179809086433. PMID 10520737. 
  3. ^ Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT (March 2005). "Dissection of the mitochondrial import and assembly pathway for human Tom40". J. Biol. Chem. 280 (12): 11535–43. doi:10.1074/jbc.M413816200. PMID 15644312. 
  4. ^ Devi L, Prabhu BM, Galati DF, Avadhani NG, Anandatheerthavarada HK (August 2006). "Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brain is associated with mitochondrial dysfunction". J. Neurosci. 26 (35): 9057–68. doi:10.1523/JNEUROSCI.1469-06.2006. PMID 16943564. 
  5. ^ Roses AD, Lutz MW, Huentelman MJ, Chiba-Falek O, Welsh-Bohmer KA, Reiman EM (2009-07-12). "Apoe-3 And Tomm-40 Haplotypes Determine Inheritance Of Alzheimer's Disease Independently Of Apoe-4 Risk". Alzheimer's Association 2009 International Conference on Alzheimer's Disease. Alzheimer's Association. Retrieved 2009-07-14. ; Cortez MF (2009-07-12). "Alzheimer's Gene Discovery May Help Predict Age Disease Hits". Retrieved 2009-07-14. 
  6. ^ Potkin SG, Guffanti G, Lakatos A et al. (2009). Domschke, Katharina, ed. "Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease". PLoS ONE 4 (8): e6501. doi:10.1371/journal.pone.0006501. PMC 2719581. PMID 19668339. 
  7. ^ Yu CE, Seltman H, Peskind ER, Galloway N, Zhou PX, Rosenthal E, Wijsman EM, Tsuang DW, Devlin B, Schellenberg GD (June 2007). "Comprehensive Analysis of APOE and Selected Proximate Markers for Late-onset Alzheimer Disease: Pattern of Linkage Disequilibrium and Disease/Marker Association". Genomics 89 (6): 655–65. doi:10.1016/j.ygeno.2007.02.002. PMC 1978251. PMID 17434289. 
  8. ^ Bu G (May 2009). "Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy". Nat. Rev. Neurosci. 10 (5): 333–44. doi:10.1038/nrn2620. PMC 2908393. PMID 19339974. 

See Also[edit]

Further reading[edit]