ATP6V1G2
Description
The ATP6V1G2 (ATPase H+ transporting V1 subunit G2) is a protein-coding gene located on chromosome 6.
ATP6V1G2, also known as ATP6G and ATP6G2, is a gene that encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme responsible for acidifying intracellular compartments in eukaryotic cells. This acidification is vital for various processes like protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase consists of two domains: a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain contains the ATP catalytic site and is made up of three A and three B subunits, two G subunits, and the C, D, E, F, and H subunits. The V0 domain consists of five subunits: a, c, c', c double prime, and d. Multiple genes and alternative splicing generate isoforms for many V1 and V0 subunit proteins. The ATP6V1G2 gene encodes one of the three V1 domain G subunit proteins.
ATP6V1G2 encodes a subunit of the V1 complex of vacuolar (H+)-ATPase (V-ATPase), a multisubunit enzyme. This enzyme is crucial for maintaining the acidic pH of intracellular compartments within cells. In specific cell types, V-ATPase can also be found on the plasma membrane, where it contributes to acidification of the extracellular environment.
ATP6V1G2 is also known as ATP6G, ATP6G2, NG38, VMA10.
Associated Diseases
- schizophrenia 15
- Phelan-McDermid syndrome
- allergic disease
- childhood onset asthma
- Potocki-Lupski syndrome
