巴尔得-别德尔综合征相关蛋白12抗体
规格：1尘驳/1尘濒
英文名： BBS12
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.
分子量： 79kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human BBS12
交叉反应：Human, Mouse, Cow, Horse, Rabbit,
细胞定位：
巴尔得-别德尔综合征相关蛋白12抗体产物介绍：background: 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 巴尔得-别德尔综合征相关蛋白12抗体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 pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and 巴尔得-别德尔综合征相关蛋白12抗体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 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
巴尔得-别德尔综合征相关蛋白12抗体产物应用：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：肿瘤 细胞生物 神经生物学 ***病
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid