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首页>>免疫学>>一抗>>巴尔得-别德尔综合征相关蛋白8抗体
巴尔得-别德尔综合征相关蛋白8抗体
  • 产品货号：
    BN40308R
  • 中文名称：
    巴尔得-别德尔综合征相关蛋白8抗体
  • 英文名称：
    Rabbit anti-TTC8 Polyclonal antibody
  • 品牌：
    Biorigin

  • 货号

    产品规格

    售价

    备注

  • BN40308R-100ul

    100ul

    ¥2360.00

    交叉反应：Human,Mouse(predicted:Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep) 推荐应用：WB,IHC-P,IHC-F,ICC,IF,Flow-Cyt,ELISA

  • BN40308R-200ul

    200ul

    ¥3490.00

    交叉反应：Human,Mouse(predicted:Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep) 推荐应用：WB,IHC-P,IHC-F,ICC,IF,Flow-Cyt,ELISA

产品描述

英文名称TTC8
中文名称巴尔得-别德尔综合征相关蛋白8抗体
别    名Bardet Biedl syndrome 8 protein; Bardet Biedl syndrome type 8; Bardet-Biedl syndrome 8 protein; BBS8; Tetratricopeptide repeat domain 8; Tetratricopeptide repeat protein 8; TPR repeat protein 8; TTC 8; Ttc8; TTC8_HUMAN.  
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,  (predicted: Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, )
产品应用WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=0.2ug/test 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.
分 子 量61kDa
细胞定位细胞浆 细胞膜 
性    状Liquid
浓    度1mg/ml
免 疫 原KLH conjugated synthetic peptide derived from human BBS8:251-330/541 
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Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
PubMedPubMed
产品介绍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:
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. Interacts with PCM1. Interacts with CCDC28B.

Subcellular Location:
Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm.

Tissue Specificity:
Widely expressed.

DISEASE:
Defects in TTC8 are the cause of retinitis pigmentosa type 51 (RP51) [MIM:613464]. It is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Defects in TTC8 are the cause of Bardet-Biedl syndrome type 8 (BBS8) [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.

Similarity:
Contains 8 TPR repeats.

SWISS:
Q8TAM2

Gene ID:
123016

Database links:

Entrez Gene: 123016 Human

Entrez Gene: 76260 Mouse

GenBank: NP_938051.1 Human

Omim: 608132 Human

SwissProt: Q8TAM2 Human

SwissProt: Q8VD72 Mouse

Unigene: 303055 Human

Unigene: 282660 Mouse



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.