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首頁>>免疫學>>一抗>>巴爾得-別德爾綜合征相關蛋白8抗體
巴爾得-別德爾綜合征相關蛋白8抗體
  • 產品貨號：
    BN40308R
  • 中文名稱：
    巴爾得-別德爾綜合征相關蛋白8抗體
  • 英文名稱：
    Rabbit anti-TTC8 Polyclonal antibody
  • 品牌：
    Biorigin

  • 貨號

    產品規格

    售價

    備注

  • BN40308R-100ul

    100ul

    ￥2360.00

    交叉反應：Human,Mouse(predicted:Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep) 推薦應用：WB,IHC-P,IHC-F,ICC,IF,Flow-Cyt,ELISA

  • BN40308R-200ul

    200ul

    ￥3490.00

    交叉反應：Human,Mouse(predicted:Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep) 推薦應用：WB,IHC-P,IHC-F,ICC,IF,Flow-Cyt,ELISA

產品描述

英文名稱TTC8
中文名稱巴爾得-別德爾綜合征相關蛋白8抗體
別    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.  
研究領域腫瘤  細胞生物  神經生物學  內分泌病  
抗體來源Rabbit
克隆類型Polyclonal
交叉反應Human, Mouse,  (predicted: Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, )
產品應用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 （石蠟切片需做抗原修復）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量61kDa
細胞定位細胞漿 細胞膜 
性    狀Liquid
濃    度1mg/ml
免 疫 原KLH conjugated synthetic peptide derived from human BBS8:251-330/541 
亞    型IgG
純化方法affinity purified by Protein A
儲 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
PubMedPubMed
產品介紹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.