CoCoA 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	57658 Human
Uniprot	NM_020898 Human NP_065949.1 Human Q9P1Z2 Human
Product By Gene ID	57658
Alternate Names	calcium binding and coiled-coil domain 1 Calphoglin calphoglin Cocoa Coiled-coil coactivator protein coiled-coil leucine zipper coactivator 1 inorganic pyrophosphatase activator KIAA1536calcium-binding and coiled-coil domain-containing protein 1 Sarcoma antigen NY-SAR-3