巴尔得-别德尔综合征相关蛋白12抗体elisa实验

巴尔得-别德尔综合征相关蛋白12抗体英文名称  Anti-BBS12 

中文名称  巴尔得-别德尔综合征相关蛋白12抗体 

别    名  Bardet Biedl syndrome 12 protein; Bardet-Biedl syndrome 12 (human); Bardet-Biedl syndrome 12 protein homolog; BBS12 gene; C4orf24; FLJ35630; FLJ41559; Gm1805; Gm407; Gm721; RP23-137F6.2;BBS12_HUMAN. 

浓    度  1mg/1ml 

规 格  0.2ml/200μg  

巴尔得-别德尔综合征相关蛋白12抗体抗体来源  Rabbit  

克隆类型  polyclonal 

交叉反应  Human, Mouse, Cow, Horse, Rabbit   

产品类型  一抗    

研究领域  肿瘤 细胞生物 神经生物学 内分泌病  

蛋白分子量  predicted molecular weight: 79kDa 

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated synthetic peptide derived from human BBS12 

亚    型  IgG 

纯化方法  affinity purified by Protein A 

储 存 液  Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 

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.  

保存条件  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 

Important Note  This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品介绍 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene.

Function : Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.

Subunit : Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.

Subcellular Location : Cell projection, cilium. Note: Located within the basal body of the primary cilium of differentiating preadipocytes.

DISEASE : Defects in BBS12 are the cause of Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe 巴尔得-别德尔综合征相关蛋白12抗体pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. BBS12 seems to be rarely involved in oligogenic inheritance.

Similarity : Belongs to the TCP-1 chaperonin family. BBS12 subfamily.

Database links : UniProtKB/Swiss-Prot: Q6ZW61.2