Hermansky-Pudlak syndrome 3 protein (HPS3)

Function

• involved in early stages of melanosome biogenesis & maturation

Compartment

cytoplasm

Alternative splicing

named isoforms=2

Expression

• widely expressed
• greater expression in kidney, liver, placenta

Pathology

• defects in HPS3 are the cause of Hermansky-Pudlak syndrome 3

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/203300
• OMIM: https://mirror.omim.org/entry/606118
• UniProt: http://www.uniprot.org/uniprot/Q969F9.html