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ATP5MC1 ATP synthase membrane subunit c locus 1

Gene ID: 516, updated on 28-Oct-2024
Gene type: protein coding
Also known as: ATP5A; ATP5G; ATP5G1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available

Genomic context

Location:
17q21.32
Sequence:
Chromosome: 17; NC_000017.11 (48892787..48895871)
Total number of exons:
5

Links

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