Immunogen
Synthesized peptide derived from human HPS6 AA range: 168-218
Specificity
This antibody detects endogenous levels of HPS6 at Human/Mouse/Rat
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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],
Function
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).,
Human protein sequence Database
Q86YV9
Mouse protein sequence database
Q8BLY7
Rat protein sequence database
Q7M733
Cellular localization
Microsome membrane . Cytoplasm, cytosol . Early endosome membrane . Lysosome membrane .
Tissue expression
Ubiquitous.
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