ATP6V1B2

ATP6V1B2 encodes the non-catalytic B subunit (brain isoform, B2) of the V1 peripheral domain of the vacuolar-type H+-ATPase (V-ATPase). The V1 complex hydrolyzes ATP to power proton translocation through the membrane-embedded V0 domain. Three non-catalytic B2 subunits alternate with three catalytic A subunits (ATP6V1A) to form the catalytic AB heterohexameric ring of V1. ATP6V1B2 is the ubiquitously expressed isoform of the B subunit, in contrast to the kidney-specific B1 isoform (ATP6V1B1). V-ATPase acidifies lysosomes, endosomes, Golgi, and secretory vesicles in all cell types; in specialized cells including renal intercalated cells and melanocytes, it is found at the apical plasma membrane and in melanosomes respectively. ATP6V1B2 can partially compensate for ATP6V1B1 in renal intercalated cells under baseline conditions but not under conditions of acid load. Dominant mutations in ATP6V1B2 cause two allelic syndromes: DDOD (dominant deafness-onychodystrophy syndrome, MIM:124480) and Zimmermann-Laband syndrome type 2 (ZLS2, MIM:616455).

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.