Aliases for ATP6V0A2 Gene
- ATPase H+ Transporting V0 Subunit A2 2 3 5
- ATPase, H+ Transporting, Lysosomal V0 Subunit A2 2 3
- Lysosomal H(+)-Transporting ATPase V0 Subunit A2 3 4
- Infantile Malignant Osteopetrosis 2 2
- 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
- V-Type Proton ATPase 116 KDa Subunit A Isoform 2 3
- V-Type Proton ATPase 116 KDa Subunit A 3
- Regeneration And Tolerance Factor 3
- V-ATPase 116 KDa Isoform A2 4
- V-ATPase 116 KDa 3
- A2V-ATPase 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 PI3K-Akt signaling pathway and Innate Immune System. 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 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.