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ATP5MC3 ATP synthase membrane subunit c locus 3

Gene ID: 518, updated on 2-Nov-2024
Gene type: protein coding
Also known as: P3; ATP5G3; DYTSPG

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 different proteins have been identified. [provided by RefSeq, Jun 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Dystonia, early-onset, and/or spastic paraplegia
MedGen: C5562051OMIM: 619681GeneReviews: Not available
not available

Genomic context

Location:
2q31.1
Sequence:
Chromosome: 2; NC_000002.12 (175176258..175181710, complement)
Total number of exons:
5

Links

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