Gene: ATP6V0D1

Alternate names for this Gene: ATP6D|ATP6DV|P39|VATX|VMA6|VPATPD

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 known as the D subunit and is found ubiquitously.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: ATPase H+ transporting V0 subunit d1

Type of Gene: protein-coding

rs1471142 in ATP6V0D1 gene and Age related macular degeneration PMID 29346644 2018 Genome-wide analysis of disease progression in age-related macular degeneration.