产品名称
HPS6 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/79803
Human Swissprot No.
Q86YV9
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q86YV9/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/20170
Mouse Swissprot No.
Q8BLY7
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8BLY7
Rat Gene Link
https://www.uniprot.org/uniprot/309446
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q7M733
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Microsome membrane . Cytoplasm, cytosol . Early endosome membrane . Lysosome membrane .
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).,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
