Rabbit Anti-BBS4/FITC Conjugated antibody
|别 名||Bardet Biedl syndrome 4 protein; Bardet-Biedl syndrome 4 protein; Bbs4; BBS4_HUMAN.|
|规格价格||100ul/2980元 购买 大包装/询价|
|说 明 书||100ul|
|研究领域||肿瘤 细胞生物 神经生物学 内分泌病|
|交叉反应||Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep,|
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||58kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human BBS4|
|纯化方法||affinity purified by Protein A|
|储 存 液||0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.|
|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.|
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder; BBS genes map to eight genetic loci and encode eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS4 is expressed in the olfactory epithelium and localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia. BBS4 regulates the p150 subunit of the dynein transport machinery (DCTN1) to attract pericentriolar material-1 protein (PCM1) and its associated components to the satellites. Loss of BBS4 is correlated with obesity caused by abnormal lipid profiles, liver dysfunction, elevated insulin, and abnormal leptin levels.
May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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 the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to 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.
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with DCTN1. Interacts with CCDC28B.
Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein. Localizes to nonmembranous centriolar satellites in the cytoplasm.
Ubiquitously expressed. The highest level of expression is found in the kidney.
Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4) [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 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.
Belongs to the BBS4 family.
Contains 10 TPR repeats.
Entrez Gene: 585 Human
Entrez Gene: 102774 Mouse
Entrez Gene: 300754 Rat
Omim: 600374 Human
SwissProt: Q96RK4 Human
SwissProt: Q8C1Z7 Mouse
Unigene: 208681 Human
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications
BARDET Biedl综合征（Baldt Biedl综合征）是一种多效性遗传性疾病，其特征是肥胖、感光细胞退化、多指畸形、肾功能减退、肾功能异常和发育迟缓。BBS患者的其他相关临床表现包括糖尿病、高血压和先天性心脏缺陷。BBS是一种异质性障碍，BBS基因映射到八个遗传位点，编码八个蛋白BBS1-BBS8。五个BBS基因编码基体或纤毛蛋白，提示BBS是睫状体功能障碍。BBS4在嗅上皮中表达，定位于中心体和初级纤毛基底的中心粒卫星。BBS4调节Dynin转运机械（DCTN1）的P150亚基，以吸引中心粒细胞-1蛋白（PCM1）及其相关组分到卫星。BBS4的丢失与血脂异常、肝功能不全、胰岛素升高和瘦素水平异常所引起的肥胖有关。