DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1F and Hermansky-Pudlak syndrome 3

ATP6V1F [ENSP00000417378]

V-type proton ATPase subunit F; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Synonyms:  ATP6V1F,  ATP6V1Fp,  hATP6V1F,  A4D1K0,  Q16864 ...

Linkouts:  STRING  Pharos  UniProt  OMIM