ATP5MC1

ATP synthase membrane subunit c locus 1

Summary

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Known Variants11 total

rsidPosition (GRCh37)AllelesClassClinVar
rs52480817:46,969,369G/Aregulatory region variant
rs90754506517:46,971,735T/Auncertain significance
rs75108064517:46,971,750G/Auncertain significance
rs76973729017:46,972,554C/Tuncertain significance
rs93194099417:46,972,557G/Cuncertain significance
rs20039527517:46,972,582G/Auncertain significance
rs76576447417:46,972,594C/Tuncertain significance
rs37709345617:46,972,695A/Tuncertain significance
rs134169019217:46,973,100T/Cuncertain significance
rs75394444417:46,973,105G/Auncertain significance
rs53049786717:46,973,548C/A

Gene information from NCBI Gene. Variant classifications from ClinVar.