Hermansky-Pudlak syndrome 6 protein; Ruby-eye protein homolog; Ru (HPS6)

Function

• regulates synthesis & function of lysosomes & specialized organelles, including melanosomes & platelet dense granules
• directly interacts with HSP6 in a complex known as biogenesis of lysosome-related organelles complex-2 (BLOC2)

Pathology

• defects in HPS6 are the cause of Hermansky-Pudlak syndrome 6

More general terms

• Hermansky-Pudlak syndrome 1 protein (HPS1, HPS)

Component of

• biogenesis of lysosome-related organelles complex-2 (BLOCK2)

Database

• OMIM: https://mirror.omim.org/entry/203300
• OMIM: https://mirror.omim.org/entry/607522
• UniProt: http://www.uniprot.org/uniprot/Q86YV9.html