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ATP6V1B1 - ATPase H+ transporting V1 subunit B1

  • Synonym(s) : Renal tubular acidosis with deafness, RTA1B, VATB, V-ATPase subunit B1, Vma2
  • Previous symbols and names : ATP6B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1, VPP3, vacuolar proton pump 3
  • Type : gene with protein product
  • Chromosomal location : 2p13.3
  • OMIM: 192132
  • HGNC: 853
  • UniProtKB: P15313
  • Genatlas: ATP6V1B1
  • Ensembl: ENSG00000116039
  • IUPHAR-DB: 811
  • Reactome: P15313
  • LOVD: ATP6V1B1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Patient-centred resources for this gene

Specialised Social Services

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