ATP5MC3 Chromosome 2

ATP synthase membrane subunit c locus 3
3 variants 3 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex V: ATP synthase subunits
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000154518
Associated Conditions (4)
ATP5G3-associated disorder
Dystonia
early-onset
and/or spastic paraplegia
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS757411192 Health Risk Likely pathogenic ATP5G3-associated disorder, Dystonia, early-onset
RS1199660343 Health Risk Pathogenic Dystonia, early-onset, and/or spastic paraplegia
RS1700730895 Health Risk Pathogenic Dystonia, early-onset, and/or spastic paraplegia
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