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

Gene: ATP6V1B1-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: ATP6V1B1 antisense RNA 1

Type of Gene: ncRNA