Translocase of outer mitochondrial membrane 40 homolog (yeast), also known as TOMM40, is a protein which in humans is encoded by the TOMM40gene.[5][6]
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 a translocase of the mitochondrial outer membrane (TOM) that is essential for protein transport into mitochondria.[7]
Clinical significance
In humans, 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 appears 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]
^ abFreitas 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. PMID10520737.
^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. PMID15644312.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^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. PMID16943564.