Primary Identifier | IPR017216 | Type | Family |
Short Name | HPS3 |
description | The Hermansky-Pudlak syndrome 3 protein, also known as BLOC-2 complex member HPS3, is involved in early stages of melanosome biogenesis and maturation []. 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 [, ]. |