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EPEO3

Chr 16AD

ATPase H+ transporting V0 subunit c

Also known as: ATP6C, ATP6L, ATPL, EPEO3, VATL, VPPC, Vma3

NCBI Gene: 527 OMIM: 620465

This gene encodes the V0 subunit c of vacuolar ATPase (V-ATPase), a multisubunit enzyme that acidifies intracellular organelles and is essential for protein sorting, endocytosis, and synaptic vesicle proton gradient generation. Mutations cause early-onset epilepsy with or without developmental delay through an autosomal dominant inheritance pattern. The condition primarily affects the nervous system with seizures beginning in early life.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]

OMIM ResearchGenerating clinical summary…