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 ?
The predictive model was calculated as the sum of the predictor values weighted by regression coefficients and included the addition of cetuximab to chemotherapy ([beta]=+1.771), mutations in 6 genes: ATP6V1B1 ([beta]=-0.165) CUL9 ([beta]=-0.726), ERBB2 ([beta]=-1.140), LY6G6D ([beta]=-0.994), PTCH1 ([beta]=+0.821), and RBMXL3 ([beta]=-0.477), and constant value (a=-0.255).
The false-negative variant c.1155dupC in ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1) was seen in 77% of reverse reads and in only 5.5% of forward reads (Table 3).
Two disease-causing variants have been missed [c.3364C>T (COL11A2) and c.1155dupC (ATP6V1B1)].
[4] BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; Human genes; COL11A2, collagen, type XI, alpha 2; ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; SLC26A4, solute carrier family 26 (anion exchanger), member 4; CNGB3, cyclic nucleotide gated channel beta 3.
Primer dRTA otozomal dominant (SLC4A1 geni) veya resesif olabilir (ATP6V1B1 veya ATP6V0A4 genleri).
Distal tubulun [alpha]-interkalat hucrelerinden H1 iyonlannin salgilanamamasi hasarli vakuolar H1-ATPaz (ATP6V1B1 veya ATP6V0A4 genleri) veya bir hasarlt C1_/HCO3_ anyon degistiriei-1 (SLC4A1 geni) tarafindan ortaya vicar.
We detected a wide heterozygous duplication at 2p13.3 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).