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Protein-coding gene in the species Homo sapiens
Mitochondrial import receptor subunit TOM40 homolog is a protein which in humans is encoded by the TOMM40 gene .[ 5] [ 6]
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 [ edit ] Certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease .[ 8] [ 9] [ 10] TOMM40 is located on chromosome 19 , and is closely adjacent to APOE [ 6] TOMM40 with Alzheimer's is due to linkage disequilibrium .[ 11] [ 12]
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