HPS3 Products

Description

HPS3 is involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of the cocoa (coa) mutant, and of Hermansky-Pudlak syndrome type 3 (HPS3). HPS3 is an autosomal recessive disorder, characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

Bioinformatics

Entrez	84343 Human
Uniprot	AAH16901.1 Human NM_032383 Human NP_115759 Human NP_115759. Human
Product By Gene ID	84343
Alternate Names	DKFZp686F0413 FLJ22704 Hermansky-Pudlak syndrome 3 protein Hermansky-Pudlak syndrome 3 SUTAL