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.
Pathway
Collecting duct acid secretion; Collecting duct acid secretion; Disease; Epithelial cell signaling in Helicobacter pylori infection; Epithelial cell signaling in Helicobacter pylori infection; Insulin receptor recycling; Iron uptake and transport; Latent infection of Homo sapiens with Mycobacterium tuberculosis; Lysosome; Lysosome; Oxidative phosphorylation;
Citations
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