TOMM40
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Mitochondrial import receptor subunit TOM40 homolog is a protein which in humans is encoded by the TOMM40 gene.[1][2]
Function
[edit | edit source]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.[3]
Clinical significance
[edit | edit source]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 appear 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]
See also
[edit | edit source]References
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Further reading
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