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Rabbit Anti-HPS2  antibody (bs-17380R)  
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產品編號 bs-17380R
英文名稱 Rabbit Anti-HPS2  antibody
中文名稱 HPS2蛋白抗體
別    名 Adapter related protein complex 3 beta 1 subunit; Adapter-related protein complex 3 subunit beta-1; Adaptor protein complex AP-3 subunit beta-1; Adaptor protein complex AP3 beta1 subunit; ADTB3; ADTB3A; AP-3 complex subunit beta-1; AP3 complex beta1 subunit; AP3B1; AP3B1_HUMAN; Beta-3A-adaptin; Beta3A adaptin; Clathrin assembly protein complex 3 beta 1 large chain; Clathrin assembly protein complex 3 beta-1 large chain; HPS; PE.  
研究領域 細胞生物  免疫學  信號轉導  轉運蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Human,Mouse (predicted: Rat,Rabbit,Pig,Sheep,Cow,Dog,Cat,Horse)
產品應用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 121kDa
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human HPS2: 1-100/1094 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Function:
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles.

Subcellular Location:
Golgi apparatus. Cytoplasmic vesicle > clathrin-coated vesicle membrane. Golgi apparatus. Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Tissue Specificity:
Ubiquitously expressed.

Post-translational modifications:
Phosphorylated on serine residues.

DISEASE:
Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. 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. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.

Similarity:
Belongs to the adaptor complexes large subunit family.

SWISS:
O00203

Gene ID:
8546

Database links:

Entrez Gene: 767602 Cow

Entrez Gene: 403459 Dog

Entrez Gene: 8546 Human

Entrez Gene: 11774 Mouse

Entrez Gene: 100049670 Pig

Entrez Gene: 443724 Xenopus laevis

Omim: 603401 Human

SwissProt: Q32PG1 Cow

SwissProt: Q7YRF1 Dog

SwissProt: O00203 Human

SwissProt: Q9Z1T1 Mouse

Unigene: 532091 Human

Unigene: 21185 Mouse



產品圖片
Sample: HepG2(Human) Lysate at 40 ug Primary: Anti- HPS2 (bs-17380R) at 1/300 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 121kD Observed band size: 121 kD
Sample: Testis(Mouse) Lysate at 40 ug Primary: Anti- HPS2 (bs-17380R) at 1/300 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 121kD Observed band size: 121 kD
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