ATP5F1C

Chr 10

ATP synthase F1 subunit gamma

Also known as: ATP5C, ATP5C1, ATP5CL1

NCBI Gene: 509 ENSG00000165629 UniProt: P36542

The protein is the gamma subunit of mitochondrial ATP synthase (Complex V), which produces ATP from ADP using the proton gradient generated by the respiratory chain and is essential for F1 catalytic domain assembly. Mutations cause autosomal recessive mitochondrial complex V deficiency, presenting as a severe mitochondrial disorder affecting multiple organ systems. The gene shows low constraint to loss-of-function variants, consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

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 consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

Mechanism· predicted

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