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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATP6V0A2-20-RE | 20 (40 μL) | 200 μL |  |
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| ATP6V0A2-20-OR | 20 (40 μL) | 200 μL |  |
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| ATP6V0A2-20-GO | 20 (40 μL) | 200 μL |  |
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| ATP6V0A2-20-GR | 20 (40 μL) | 200 μL |  |
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| ATP6V0A2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : ATP6V0A2
Gene Name : ATPase H+ transporting V0 subunit a2
Chromosome : CHR 12: 123,712,317-123,761,754
Locus : 12q24.31
Alt. Genes : G3BP1
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