Literature associating ATP6V1B1 and autosomal recessive osteopetrosis 7
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 ...