Hermansky-Pudlak syndrome 4 protein (light-ear protein homolog, HPS4, KIAA1667)

Function

• role in pathway of organelle biogenesis

Alternative splicing

named isoforms=4

Pathology

• defects in HPS4 are the cause of Hermansky-Pudlak syndrome 4

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/203300
• OMIM: https://mirror.omim.org/entry/606682
• UniProt: http://www.uniprot.org/uniprot/Q9NQG7.html