ATP6V1B2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP6V1B2 wild-type allele is located in the vicinity of 8p21.3 and is approximately 29 kb in length. This allele, which encodes V-type proton ATPase subunit B, brain isoform protein, plays a role in the regulation of hydrogen ion concentrations in cellular organelles. Mutation of the gene is associated with autosomal dominant congenital deafness with onychodystrophy and Zimmermann-Laband syndrome 2.

**Synonyms:** - ATP6B1B2 - ATP6B2 - ATPase H+ Transporting V1 Subunit B wt Allele - ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Beta Polypeptide, 56/58kD, Isoform 2 Gene - ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 2 Gene - ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B2 Gene - ATPase, H+ Transporting, Lysosomal, 56/58-kDa, V1 Subunit B, Isoform 2 Gene - DOOD - HO57 - VATB - VPP3 - Vaculoar Proton Pump B Isoform 2 Gene - Vma2 - ZLS2