Aliases for ATP6V1C2 Gene
External Ids for ATP6V1C2 Gene
Previous GeneCards Identifiers for ATP6V1C2 Gene
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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1C2 Gene
ATP6V1C2 (ATPase H+ Transporting V1 Subunit C2) is a Protein Coding gene. Diseases associated with ATP6V1C2 include Renal Tubular Acidosis and Deafness, Autosomal Recessive 47. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1C1.
UniProtKB/Swiss-Prot Summary for ATP6V1C2 Gene
Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.