ATP6V0A2

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ATP6V0A2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ATP6V0A2, A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, ATPase H+ transporting V0 subunit a2
External IDs MGI: 104855 HomoloGene: 56523 GeneCards: ATP6V0A2
RNA expression pattern
PBB GE ATP6V0A2 205704 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012463

NM_011596

RefSeq (protein)

NP_036595

NP_035726.2
NP_035726

Location (UCSC) Chr 12: 123.71 – 123.76 Mb Chr 5: 124.63 – 124.72 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4][5]

Function[edit]

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.[5]

Clinical significance[edit]

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Lee C, Ghoshal K, Beaman KD (Jan 1991). "Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role". Mol Immunol. 27 (11): 1137–1144. doi:10.1016/0161-5890(90)90102-6. PMID 2247090. 
  4. ^ Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S (Dec 2007). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nat Genet. 40 (1): 32–34. doi:10.1038/ng.2007.45. PMID 18157129. 
  5. ^ a b c "Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.