ATP6V1B1(redirected from ATP6B1)
ATP6V1B1A 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.
ATP6V1B1 mutations cause distal renal tubular acidosis with sensorineural deafness.
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