Protein Domain : Hermansky-Pudlak syndrome 3 protein IPR017216

Type  Family
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 [, ].
Short Name  HPS3

0 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

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