Preferred Label : ATP6V1B2 wt Allele;
NCIt synonyms : ZLS2; ATPase H Transporting V1 Subunit B wt Allele; ATP6B1B2; VATB; ATPase, H Transporting, Lysosomal (Vacuolar Proton Pump), Beta Polypeptide, 56/58kD,
Isoform 2 Gene; ATPase, H Transporting, Lysosomal 56/58kDa, V1 Subunit B2 Gene; VPP3; DOOD; Vaculoar Proton Pump B Isoform 2 Gene; ATPase, H Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 2 Gene; ATPase, H Transporting, Lysosomal, 56/58-kDa, V1 Subunit B, Isoform 2 Gene; Vma2; ATP6B2; HO57;
NCIt 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.;
NCI Metathesaurus CUI : CL1912925;
GenBank Accession Number : L35249;
Origin ID : C192704;
UMLS CUI : C5781376;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
