Disease-gene associations mined from literature

Literature associating ATP6V1B1 and osteopetrosis

ATP6V1B1 [ENSP00000234396]

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; 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:  ATP6V1B1,  ATP6B1,  B4DWH7,  C9J5E3,  C9JL73 ...

Linkouts:  STRING  Pharos  UniProt  OMIM