Disease-gene associations mined from literature

Literature associating HPS1 and pulmonary fibrosis

HPS1 [ENSP00000326649]

Hermansky-Pudlak syndrome 1 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.

Synonyms:  HPS1,  HPS1p,  hHPS1,  HPS1-001,  HPS1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM