ATP6V0A2


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ATP6V0A2

A gene on chromosome 12q24.31 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation.

Molecular pathology
ATP6V0A2 mutations cause cutis laxa type II and wrinkly skin syndrome.
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[9] Human genes: MGAT2, mannosyl ([alpha]-1,6-)-glycoprotein [beta]-1,2-N-acetylglucos-aminyltransferase; B4GALT1, [beta]-1,4-galactosyltransferase 1; SLC35A1, solute carrier family 35 (CMP-sialic acid transporter), member A1 (other designation: CMP-sialic acid transporter); SLC35C1, solute carrier family 35, member C1 (other designation: GDP-fucose transporter); COG7, component of oligomeric Golgi complex 7 (other designation: subunit 7 of the conserved oligomeric Golgi complex); ATP6V0A2, ATPase, H+ transporting, lysosomal V0 subunit a2 (other designation: subunit V0 a2 of the lysosomal [H.sup.+]-transporting ATPase).