Disease-gene associations mined from literature

Literature associating HPS5 and Ghosal hematodiaphyseal syndrome

HPS5 [ENSP00000265967]

Hermansky-Pudlak syndrome 5 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins; Belongs to the HPS5 family.

Synonyms:  HPS5,  HPS5p,  hHPS5,  F5GWM5,  F5H6Q8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM