ATP6V1B1

(redirected from H(+)-transporting two-sector ATPase, 58-kD subunit)

ATP6V1B1

A gene on chromosome 2p13.1 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation. The ATP6V1B1 protein is found primarily in the kidney.

Molecular pathology
ATP6V1B1 mutations cause distal renal tubular acidosis with sensorineural deafness.