ATP6V0A2
gene producta2, ATP6a2, ATP6N1D, J6B7, Stv1, TJ6, TJ6M, TJ6s, Vph1
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]
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Thermo Fisher Scientific Pierce |
PA5-22099 | 0 references | Polyclonal |
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