Full name: ATPase H+ transporting V0 subunit a2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS; a2V

Summary: 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]

Expression: Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues

Gene size: 49403bp

Exon count: 21