功能： disease:Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [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 regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.,subunit:Directly interacts with HSP5 in a complex known as biogenesis of lysosome-related organelles complex-2 (or BLOC2).,
功能： disease:Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [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 regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.,subunit:Directly interacts with HSP5 in a complex known as biogenesis of lysosome-related organelles complex-2 (or BLOC2).,
在线咨询
湘公网安备