TOMM40


Description

The TOMM40 (translocase of outer mitochondrial membrane 40) is a protein-coding gene located on chromosome 19.

TOMM40 is a gene that codes for a protein embedded in the outer membranes of mitochondria. This protein is essential for the movement of proteins into mitochondria. It forms part of the TOM complex, a translocase that helps transport proteins into the mitochondrion. Certain alleles of the TOMM40 gene have been linked to an increased risk of developing late-onset Alzheimer's disease. TOMM40 is located on chromosome 19, close to the APOE gene, which is also associated with Alzheimer's. This proximity may explain the statistical correlation between TOMM40 and Alzheimer's, possibly due to linkage disequilibrium.

TOMM40 is essential for importing protein precursors into mitochondria. It also plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a complex with BCAP31 and mediating the translocation of Complex I components from the cytosol to the mitochondria.

TOMM40 is also known as C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40.

Associated Diseases


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