ATP6V1C2

ATP6V1C2 is a gene in humans that encodes a subunit of the V1 domain of the vacuolar ATPase (V-ATPase) enzyme. Specifically, it encodes the C2 isoform of the V1 subunit C.

The V-ATPase is a multi-subunit enzyme complex that mediates acidification of intracellular organelles and pumps protons across cellular membranes. It is found in virtually all eukaryotic cells and is essential for numerous cellular processes, including endocytosis, protein sorting, lysosomal degradation, and neurotransmitter release.

The V-ATPase complex is composed of two functional domains: the V1 domain and the V0 domain. The V1 domain is responsible for ATP hydrolysis, providing the energy to drive proton transport by the V0 domain. The V1 domain consists of eight subunits: A, B, C, D, E, F, G, and H. Different isoforms of some of these subunits exist, adding to the complexity and functional diversity of the V-ATPase.

ATP6V1C2, the protein product of this gene, is one of the isoforms of subunit C in the V1 domain. Other isoforms of subunit C include ATP6V1C1. These isoforms can exhibit tissue-specific expression and may contribute to the functional specialization of V-ATPases in different cellular contexts.

Mutations in genes encoding V-ATPase subunits, including ATP6V1C2, have been linked to a variety of human diseases, including distal renal tubular acidosis (dRTA) and other disorders affecting cellular acidification.

The precise functional role of ATP6V1C2, and how it differs from other isoforms of the C subunit, continues to be an area of active research. Studies are ongoing to understand the specific contribution of ATP6V1C2 to V-ATPase function and its involvement in various physiological processes and disease states.