Rabbit Anti-TTC8/FITC Conjugated antibody
|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.|
|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, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,|
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||61kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human BBS8|
|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. 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.
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.
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.
Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm.
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.
Contains 8 TPR repeats.
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
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。