Entrez 23545 | Ensembl ENSG00000185344 | |
 | ||
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(Text) CC BY-SA