巴尔得-别德尔综合征相关蛋白9抗体
规格：1尘驳/1尘濒
英文名： BBS9
别名： B1 antibody; Bardet Biedl syndrome 9; Bardet-Biedl syndrome 9 protein; bbs9; C18 antibody D1 antibody MGC118917; 1 gene protein; Protein PTHB1; PTH-responsive osteosarcoma B1 protein; PTHB1; PTHB1_HUM
分子量： 99kDa
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 BBS9
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Rabbit, Sheep,
细胞定位：细胞浆 细胞膜
巴尔得-别德尔综合征相关蛋白9抗体产物介绍：background: BBS9 is an 887 amino acid protein that localizes to both the cytoplasm and the centrosome and exists as six alternatively spliced isoforms. Expressed in a wide variety of tissues, including liver, lung, heart, brain and skeletal muscle, BBS9 functions as a component of the multi-protein BBSome complex which is required for ciliogenesis and is regulated by GDP/GTP exchange factors. Defects in the gene encoding BBS9 are associated with the pathogenesis of Bardet-Biedl syndrome type 9 (BBS9), an autosomal recessive disorder that is characterized by severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Additionally, chromosomal aberrations involving the BBS9 gene may play a role in the formation of Wilms tumor 5 (WT5). Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of 巴尔得-别德尔综合征相关蛋白9抗体the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Subcellular Location: Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. Tissue Specificity: Widely expressed. Expressed in heart, skeletal muscle, lung, liver, kidney,巴尔得-别德尔综合征相关蛋白9抗体 placenta and brain, and in fetal kidney, lung, liver and brain. DISEASE: Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [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. Database links: UniProtKB/Swiss-Prot: Q3SYG4.1 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9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 神经生物学 信号转导 生长因子和** ***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