ATP6V0D2
Description
The ATP6V0D2 (ATPase H+ transporting V0 subunit d2) is a protein-coding gene located on chromosome 8.
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 is a protein in humans encoded by the ATP6V0D2 gene. It is part of proton pumps in the plasma membranes of osteoclasts and aids with extracellular acidification in bone resorption.
The ATP6V0D2 gene encodes a protein subunit (V0 subunit d2) that is part of the V0 complex of vacuolar H+-ATPase (V-ATPase). V-ATPase is a multi-subunit enzyme responsible for maintaining the acidity of intracellular compartments. In some cell types, it is located in the plasma membrane where it acidifies the extracellular environment. ATP6V0D2 is thought to contribute to the coupling of proton transport and ATP hydrolysis, and may also play a role in regulating osteoclast fusion and bone formation.
ATP6V0D2 is also known as ATP6D2, VMA6.
Associated Diseases
- dacryocystitis-osteopoikilosis syndrome
- autosomal recessive hypophosphatemic rickets
- 12q14 microdeletion syndrome
- melorheostosis
- osteomesopyknosis
- pyknoachondrogenesis
- autosomal recessive osteopetrosis 6
