DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V0A4 and autosomal recessive osteopetrosis 4

ATP6V0A4 [ENSP00000308122]

V-type proton ATPase 116 kDa subunit a isoform 4; Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Synonyms:  ATP6V0A4,  A0A024R791,  A0A2R8Y6X9,  A0A2R8Y7G6,  A0A2R8YE46 ...

Linkouts:  STRING  Pharos  UniProt