DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V0A4 and autosomal recessive osteopetrosis 7

ATP6V0A4 [ENSP00000308122]

Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney; V-type ATPases

Synonyms:  ATP6V0A4,  A0A024R791,  ATP6V0A4-001,  ATP6V0A4-002,  ATP6V0A4-003 ...

Linkouts:  STRING  Pharos  UniProt