Aliases for ATP6V0A2 Gene
- ATPase H+ Transporting V0 Subunit A2 2 3 5
- ATPase, H+ Transporting, Lysosomal V0 Subunit A2 2 2 3
- V-Type Proton ATPase 116 KDa Subunit A Isoform 2 3 4
- Lysosomal H(+)-Transporting ATPase V0 Subunit A2 3 4
- V-Type Proton ATPase 116 KDa Subunit A 3 3
- TJ6 3 4
- Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 2 4
- ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 2 2
- Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
- Regeneration And Tolerance Factor 3
- Infantile Malignant Osteopetrosis 2
- V-ATPase 116 KDa Isoform A2 4
- V-ATPase 116 KDa 3
External Ids for ATP6V0A2 Gene
Previous GeneCards Identifiers for ATP6V0A2 Gene
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]
GeneCards Summary for ATP6V0A2 Gene
ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2) is a Protein Coding gene. Diseases associated with ATP6V0A2 include Wrinkly Skin Syndrome and Cutis Laxa, Autosomal Recessive, Type Iia. Among its related pathways are Phagosome and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A1.
UniProtKB/Swiss-Prot Summary for ATP6V0A2 Gene
Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.