功能： disease:Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.,function:May play a role in the biogenesis of melanosomes and other specialized organelles of the endosomal-lysosomal system.,PTM:Phosphorylated.,similarity:Belongs to the BLOC1S3 family.,subunit:Component of the biogenesis of lysosome-related organelles (BLOC-1) complex which is composed of BLOC1S1, BLOC1S2, DTNBP1, MUTED, PLDN, CNO/cappuccino and SNAPAP. Interacts directly with BLOC1S2.,
功能： disease:Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.,function:May play a role in the biogenesis of melanosomes and other specialized organelles of the endosomal-lysosomal system.,PTM:Phosphorylated.,similarity:Belongs to the BLOC1S3 family.,subunit:Component of the biogenesis of lysosome-related organelles (BLOC-1) complex which is composed of BLOC1S1, BLOC1S2, DTNBP1, MUTED, PLDN, CNO/cappuccino and SNAPAP. Interacts directly with BLOC1S2.,
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