Gene: ATP6V1B1

Alternate names for this Gene: ATP6B1|DRTA2|RTA1B|VATB|VMA2|VPP3

Gene Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: ATPase H+ transporting V1 subunit B1

Type of Gene: protein-coding

Gene: VAX2

Alternate names for this Gene: DRES93

Gene Summary: This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: ventral anterior homeobox 2

Type of Gene: protein-coding

rs782138777 in ATP6V1B1;VAX2 gene and Multiple congenital anomalies PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.

PMID 7499943 1995 Hearing impairment in association with distal renal tubular acidosis among Saudi children.

PMID 23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

PMID 11045400 2000 New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

PMID 28188436 2017 Clinical and molecular aspects of distal renal tubular acidosis in children.

PMID 16611712 2006 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

PMID 16769747 2006 Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PMID 27247958 2016 Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

rs1553419751 in ATP6V1B1;VAX2 gene and Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness PMID 28233610 2017 The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

PMID 12579397 2003 Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 12414817 2002 Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

rs759219 in ATP6V1B1;VAX2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.