Gene Symbol | ATP6V0A2 |
Entrez Gene ID | 23545 |
Full Name | ATPase H+ transporting V0 subunit a2 |
Synonyms | A2,ARCL,ARCL2A,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2009]. |
Disorder MIM: | |
Disorder Html: | Cutis laxa, autosomal recessive, type IIA, 219200 (3); Wrinkly skin syndrome, 278250 (3) |