Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
[1]"Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis."Ruf R., Rensing C., Topaloglu R., Guay-Woodford L., Klein C., Vollmer M., Otto E., Beekmann F., Haller M., Wiedensohler A., Leumann E., Antignac C., Rizzoni G., Filler G., Brandis M., Weber J.L., Hildebrandt F. Pediatr. Nephrol. 18:105-109(2003). [2]"Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss."Stover E.H., Borthwick K.J., Bavalia C., Eady N., Fritz D.M., Rungroj N., Giersch A.B.S., Morton C.C., Axon P.R., Akil I., Al-Sabban E.A., Baguley D.M., Bianca S., Bakkaloglu A., Bircan Z., Chauveau D., Clermont M.-J., Guala A. Karet F.E.J. Med. Genet. 39:796-803(2002). [3]"Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness."Karet F.E., Finberg K.E., Nelson R.D., Nayir A., Mocan H., Sanjad S.A., Rodriguez-Soriano J., Santos F., Cremers C.W.R.J., Di Pietro A., Hoffbrand B.I., Winiarski J., Bakkaloglu A., Ozen S., Dusunsel R., Goodyer P., Hulton S.A., Wu D.K. Lifton R.P.Nat. Genet. 21:84-90(1999)
