其他名称： HPS1; HPS; Hermansky-Pudlak syndrome 1 protein
功能： alternative products:Additional isoforms seem to exist,disease:Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [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:Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.,online information:HPS1 mutations,online information:Retina International's Scientific Newsletter,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytoplasm,lysosome,integral component of plasma membrane,cytoplasmic, membrane-bounded vesicle,BLOC-3 complex,cytoplasmic vesicle,
其他名称： HPS1; HPS; Hermansky-Pudlak syndrome 1 protein
功能： alternative products:Additional isoforms seem to exist,disease:Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [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:Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.,online information:HPS1 mutations,online information:Retina International's Scientific Newsletter,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytoplasm,lysosome,integral component of plasma membrane,cytoplasmic, membrane-bounded vesicle,BLOC-3 complex,cytoplasmic vesicle,
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