FITC标记的巴德-毕德氏综合征蛋白BBS5抗体
产品名称： FITC标记的巴德-毕德氏综合征蛋白BBS5抗体
英文名称： Anti-BBS5/FITC
产品编号： HZ-9438R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： IF=1:50-200
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Rabbit Anti-BBS5/FITC Conjugated antibody
FITC标记的巴德-毕德氏综合征蛋白BBS5抗体
| 产品编号 | bs-9438R-FITC |
| 英文名称 | Anti-BBS5/FITC |
| 中文名称 | FITC标记的巴德-毕德氏综合征蛋白BBS5抗体 |
| 别 名 | Bardet Biedl syndrome 5 protein; BBS 5; BBS-5. |
| 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 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Dog, Pig, Cow, Horse, |
| 产品应用 | IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 38kDa |
| 细胞定位 | 细胞膜 |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human BBS5 |
| 亚 型 | IgG |
| 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. |
| 产品介绍 | background: 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. BBS5 localizes to ciliary basal bodies and is a member of the basal body/flagellar proteome. It plays a role in flagellar and basal body assembly and function. A mutation or loss of BBS5 may be correlated with photoreceptor degeneration 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 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. Binds to phosphoinositides. Subcellular Location: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. DISEASE: Defects in BBS5 are a cause of Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Similarity: Belongs to the BBS5 family. Database links: Entrez Gene: 129880 Human Entrez Gene: 72569 Mouse Entrez Gene: 362142 Rat GenBank: GC02P170044 Human Omim: 209900 Human SwissProt: Q8N3I7 Human SwissProt: Q8N3I7 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. BBS蛋白是一类研究早期儿童肥胖综合症有关的其中一种。巴尔得-别德尔综合征（Bardet-Biedl syndrome，BBS）的特征为不同程度的肥胖、智力延迟、色素视网膜病变、多指和肾脏异常 |
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。BBS5定位于睫状基底，是基底/鞭毛蛋白质组的一员。它起鞭毛和基体装配和功能的作用。BBS5的突变或丢失可能与感光细胞退化有关