FITC标记的巴尔得-别德尔综合征相关蛋白7抗体上海沪震实业有限公司

性能参数

产品名称: FITC标记的巴尔得-别德尔综合征相关蛋白7抗体
英文名称: Anti-BBS7/FITC
抗体货号: HZ-11509R-FITC
产品规格: 100ul
级    别: 分析纯, , 分析纯,
产品产地: 中国/上海
品牌商标: HZbscience
价    格: 2980元
抗原: Rabbit
抗原来源: Rabbit
抗体来源: Rabbit
适用物种: 
FITCconjugate:FITC
应用范围: ICC=1:50-200 IF=1:50-200
更新时间: 2018/6/14 9:03:00
详细资料:  实验方法技术资料
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使用范围:仅限科研使用,不能应用于临床
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产品详细描述

 Rabbit Anti-BBS7/FITC Conjugated antibody

FITC标记的巴尔得-别德尔综合征相关蛋白7抗体

 

产品编号 bs-11509R-FITC
英文名称 Anti-BBS7/FITC
中文名称 FITC标记的巴尔得-别德尔综合征相关蛋白7抗体
别    名 Bardet-Biedl syndrome 7; Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS7_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  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
产品应用 ICC=1:50-200 IF=1:50-200  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 80kDa
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 BBS7
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. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder mapping to eight genetic loci and encoding eight proteins, BBS1-BBS8. Five BBS proteins encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 contains two overlapping genes: BBS2L1 and BBS2L2. BBSL1 was re-named BBS7, whereas BBS2L2 independently funcitons as BBS1. BBS7 contains 672 amino acids and is expressed at low to moderate levels in most human tissues.

Function:
BBS7 is a widely expressed protein with similarity to BBS2. Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7) which is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. 

Subunit:
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 BBS2 (via C-terminus). Interacts with CCDC28B.

Subcellular Location:
Cell projection, cilium membrane. Cytoplasm

Tissue Specificity:
soform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.

DISEASE:
Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. 
Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7) [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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 

Database links:

Entrez Gene: 55212 Human

Entrez Gene: 71492 Mouse

Entrez Gene: 361930 Rat

Omim: 607590 Human

SwissProt: Q8IWZ6 Human

SwissProt: Q8K2G4 Mouse

Unigene: 591694 Human

Unigene: 286187 Mouse

Unigene: 28442 Rat



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患者也有患糖尿病、高血压和先天性心脏病的风险增加。BBS是一种异质性障碍,映射到八个基因位点,编码八个蛋白BBS1-BBS8。五BBS蛋白编码基体或纤毛蛋白,提示BBS是睫状体功能障碍。BBS2包含两个重叠基因:BBS2L1和BBS2L2。BBSL1被重新命名为BBS7,而BBS2L2独立功能为BBS1。在大多数人体组织中,BBS7含有672个氨基酸,在低到中等水平表达。

 

生物在线声明:以上所展示的信息由企业自行提供,内容的真实性、准确性和合法性由发布企业负责。生物在线对此不承担任何保证责任。

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