Gene: ATP6V0A2

Alternate names for this Gene: A2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS

Gene Summary: The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: ATPase H+ transporting V0 subunit a2

Type of Gene: protein-coding

rs745590426 in ATP6V0A2 gene and Congenital disorder of glycosylation type 1L PMID 19321599 2009 Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

rs80356756 in ATP6V0A2 gene and Cutis Laxa, Autosomal Recessive, Type IIA PMID 18157129 2008 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.