Family

Hermansky-Pudlak syndrome 3 protein (IPR017216)

Short name: HPS3

Family relationships

None.

Description

This entry represents the Hermansky-Pudlak syndrome 3 protein. It is involved in early stages of melanosome biogenesis and maturation [PMID: 11455388]. Hermansky-Pudlak syndrome 3 (HPS3) is a form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [PMID: 11455388, PMID: 11590544].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF