英文名称 TCTN1
中文名称 结构蛋白家族1抗体
别 名 TCTN1; TECT1_HUMAN; Tectonic-1.
结构蛋白家族1抗体
说 明 书 0.2ml
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 Human, Mouse, Rat, Pig, Cow, Sheep,
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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 分泌型蛋白
性 状 Lyophilized or Liquid
浓 度 1mg/1ml
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 Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
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.
结构蛋白家族1抗体 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.
Gene ID:
79600
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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