ATP6V1C2


Description

The ATP6V1C2 (ATPase H+ transporting V1 subunit C2) is a protein-coding gene located on chromosome 2.

The ATP6V1C2 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 cellular processes including 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 contains 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.

The protein is a subunit of the V1 complex of vacuolar H+-ATPase (V-ATPase). V-ATPase is a multi-subunit enzyme responsible for acidifying and maintaining the pH of intracellular compartments. In some cell types, it is targeted to the plasma membrane where it acidifies the extracellular environment. Subunit C is crucial for the assembly of the catalytic sector of the enzyme and likely plays a specific role in its catalytic activity.

ATP6V1C2 is also known as ATP6C2, VMA5.

Associated Diseases



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