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Gene : ATP6V0A4 Homo sapiens

Name  ? ATPase H+ transporting V0 subunit a4 Cytological Location  7q34
Brief Description  ATPase H transporting V0 subunit a4
Description  This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
  • synonyms:
  • RTA1C,
  • RTA1C,
  • ATP6N2,
  • ATP6V0A4,
  • HGNC:866,
  • ATP6N1B,
  • RDRTA2,
  • Stv1,
  • RTADR,
  • Vph1,
  • RTADR,
  • VPH1,
  • RDRTA2,
  • OTTHUMG00000157122,
  • AF245517,
  • ATPase, H+ transporting, lysosomal V0 subunit a4,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B,
  • STV1,
  • NM_020632,
  • ATP6N2,
  • uc003vug.4,
  • ATPase, H+ transporting, lysosomal V0 subunit a isoform 4,
  • VPP2,
  • VPP2,
  • A4,
  • a4,
  • ATP6N1B,
  • ATPase, H+ transporting, lysosomal V0 subunit A4
  • identifiers:
  • 50617,
  • ENSG00000105929,
  • ATP6V0A4

Genome feature

Region: gene ? Length: 93546  
Location: 7:138706294-138799839 reverse strand Cyto location: 7q34


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1 Diseases

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80 SN Ps

5 Cross References

19 Data Sets

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0 Located Features

97 Rna Seq Results