ATP6V1B1

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.
References in periodicals archive ?
ATP6V1B1 mutasyonlari olan hastalarda isitme ye sinirsel tip duyma kaybi kaybolabilir.
3 that spanned about 735 kb and included 10 genes: CD207 (CD207 molecule, langerin), VAX2 (ventral anterior homeobox 2), ATP6V1B1 (ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunitB1), ANKRD53 (ankyrin repeat domain 53), TEX261 (testis expressed 261), NAGK (N-acetylglucosamine kinase), MCEE (methylmalonyl CoA epimerase), MPHOSPH10 [M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)], PAIP2B [poly(A) binding protein interacting protein 2B], and ZNF638 (zinc finger protein 638), as well as the first 20 exons of DYSF [dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)], which causes LGMD2B (33).