ATP6V0A2
Template:Short description Template:Cs1 config Template:Infobox gene 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.[1][2][3]
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.[3]
Clinical significance
Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.[3]
References
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Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Autosomal Recessive Cutis Laxa
- OMIM entries on ATP6V0A2-Related Autosomal Recessive Cutis Laxa
- Template:UCSC gene info
This article incorporates text from the United States National Library of Medicine, which is in the public domain.