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gene: ATP6V0A2

id23545
symbolATP6V0A2
organismHomo sapiens
full nameATPase H+ transporting V0 subunit a2
summaryThe 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. [provided by RefSeq, Jul 2009]
variant-disease

NM_012463.3(ATP6V0A2):c.1121A>G (p.Lys374Arg) AND not specified

NM_012463.3(ATP6V0A2):c.426T>C (p.Asn142=) AND not specified

NM_012463.3(ATP6V0A2):c.1929delA (p.Gln645Argfs) AND Cutis laxa with osteodystrophy

NM_012463.3(ATP6V0A2):c.839delC (p.Glu281Argfs) AND Cutis laxa with osteodystrophy

ATP6V0A2, 1-BP INS, 100A AND Cutis laxa with osteodystrophy

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