免疫原
Synthesized peptide derived from human HPS6 AA range: 168-218
特异性
This antibody detects endogenous levels of HPS6 at Human/Mouse/Rat
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景（Background）
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008],
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).,
细胞定位
Microsome membrane . Cytoplasm, cytosol . Early endosome membrane . Lysosome membrane .
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