TOMM40
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Mitochondrial import receptor subunit TOM40 homolog is a protein which in humans is encoded by the TOMM40 gene.[5][6]
| TOMM40 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TOMM40, C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40, translocase of outer mitochondrial membrane 40 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608061; MGI: 1858259; HomoloGene: 101105; GeneCards: TOMM40; OMA:TOMM40 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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 the translocase of the outer membrane (TOM) complex, a translocase of the outer mitochondrial membrane that is essential for protein transport into the mitochondrion.[7]
Clinical significance
Certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.[8][9] One study has found that TOMM40 risk alleles appear twice as often in people with Alzheimer's disease than those without it.[10] Because TOMM40 is located on chromosome 19, and is closely adjacent to APOE,[6] 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.[11][12]
