Vacuolar proton pump, subunit 3
The ATP6V1B1 gene encodes a component of the proton pump, which is present in various organs and organelles. The renal variety of the proton pump eliminates acids from the body. If this gene is mutated, renal proton excretion is impaired and acidosis ensues.
Stover EH et al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
NCBI 525 [^]
Omim 192132 [^]
Orphanet ID 118872 [^]
Wikipedia EN (ATP6V1B1) [^]
Update: April 29, 2019