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Rabbit Anti-TCTN1/APC Conjugated antibody (bs-12319R-APC)
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说 明 书: 100ul  
100ul/2980.00元
大包装/询价
产品编号 bs-12319R-APC
英文名称 Rabbit Anti-TCTN1/APC Conjugated antibody
中文名称 APC标记的结构蛋白家族1抗体
别    名 TCTN1; TECT1_HUMAN; Tectonic-1.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 细胞生物  免疫学  神经生物学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human, Mouse, Rat, Pig, Cow, 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 61kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human TCTN1
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:
Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23.

Function:
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity).

Subunit:
Part of the tectonic-like complex (also named B9 complex) (By similarity).

Subcellular Location:
Secreted.

DISEASE:
Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13) [MIM:614173]. JBTS13 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Similarity:
Belongs to the tectonic family.

Database links:

Entrez Gene: 79600 Human

Entrez Gene: 654470 Mouse

Omim: 609863 Human

SwissProt: Q2MV58 Human

SwissProt: Q8BZ64 Mouse

Unigene: 211511 Human

Unigene: 375934 Mouse



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