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ATP6V0A2
ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V0A2 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 Name: | ATPase, H+ transporting, lysosomal V0 subunit a2 |
| Family/Subfamily: | Transporter , ATPase - V type |
| Synonyms: | ATP6V0A2, A2V-ATPase, ARCL, ARCL2A, ATP6A2, ATP6N1D, RTF, STV1, V-ATPase 116 kDa, TJ6S, WSS, J6B7, TJ6, TJ6M, V-ATPase 116 kDa isoform a2, VPH1 |
| Target Sequences: | NM_012463 NP_036595.2 Q9Y487 |
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