DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1B1 and autosomal recessive osteopetrosis 7

ATP6V1B1 [ENSP00000234396]

V-type proton ATPase subunit B, kidney isoform; 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,  C9JL73,  C9JNS9,  C9JZ02,  P15313 ...

Linkouts:  STRING  Pharos  UniProt  OMIM