Disease-gene associations mined from literature

ATP6V1B2 disease associations

ATP6V1B2 [ENSP00000276390]

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the ATPase alpha/beta chains family.

Synonyms:  ATP6V1B2,  B4DFM5,  B4DQI9,  E5RGH6,  P21281 ...

Linkouts:  STRING  Pharos  UniProt  OMIM