Girish Mahajan

ATP6V0A2

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Species  Human
Entrez  23545
Human  Mouse
Ensembl  ENSG00000185344
ATP6V0A2
Aliases  ATP6V0A2, A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, ATPase H+ transporting V0 subunit a2
External IDs  MGI: 104855 HomoloGene: 56523 GeneCards: ATP6V0A2

V-type proton ATPase 116 kDa subunit a isoform 2 also known as V-ATPase 116 kDa isoform a2 is an enzyme that in humans is encoded by the ATP6V0A2 gene.

Contents

Function

V-ATPase 116 kDa isoform a2 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 consists 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.

Clinical significance

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.

References

ATP6V0A2 Wikipedia


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