|  Help  |  About  |  Contact Us

Protein Domain : Hermansky-Pudlak syndrome 3 protein

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 [, ].

0 Child Features

0 Parent Features

20 Protein Domain Regions