BD-PN0762

HPS5 Rabbit Polyclonal Antibody

常规抗体

HPS5 AIBP63 KIAA1017

Hermansky-Pudlak syndrome 5 protein (Alpha-integrin-binding protein 63) (Ruby-eye protein 2 homolog) (Ru2)

WB

Human,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

11234

Q9UPZ3

https://www.uniprot.org/uniprotkb/Q9UPZ3/entry

P59438

http://www.uniprot.org/uniprot/P59438

Synthesized peptide derived from part region of human protein

HPS5 Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

124kD

-20°C/1 year

Polyclonal, Rabbit,IgG

This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008],

Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.

Cytoplasm, cytosol .

disease:Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5) [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. Might be involved in the regulation of general functions of integrins.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the HPS5 family.,subunit:Directly interacts with HSP6 in a complex known as biogenesis of lysosome-related organelles complex-2 (or BLOC2). Might interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6.,tissue specificity:Widely expressed, with highest expression in liver, spinal chord, testis and thalamus.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.