DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V0D2 and pycnodysostosis

ATP6V0D2 [ENSP00000285393]

V-type proton ATPase subunit d 2; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity).

Synonyms:  ATP6V0D2,  A0A024R991,  E5RHJ7,  E5RIR3,  Q8N8Y2 ...

Linkouts:  STRING  Pharos  UniProt