HPS2蛋白抗体

规格：1mg/1ml

英文名： HPS2

别名： 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; ADTB3

分子量： 121kDa

储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce

克隆类型：Polyclonal

亚型：IgG

纯化方法：affinity purified by Protein A

免疫原：KLH conjugated synthetic peptide derived from human HPS2

交叉反应：Human, Mouse, Rat, Dog, Pig, Cow,  Xenopus laevis

细胞定位：

HPS2蛋白抗体产品介绍：background: 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 HPS2蛋白抗体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 deathHPS2蛋白抗体 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. 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 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

HPS2蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.

研究领域：细胞生物  免疫学  信号转导  转运蛋白  

储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

来源： Rabbit

外观： Lyophilized or Liquid