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

Gene: LOC105370042

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs6488898 in ATP6V0A2;LOC105370042 gene and Adiponectin Measurement PMID 22479202 2012 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

rs80356751 in ATP6V0A2;LOC105370042 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.