英文名称 TCTN2
中文名称 结构蛋白家族2抗体
别 名 C12orf38; FLJ12975; MKS8; OTTHUMP00000239215; OTTHUMP00000239216; Tctn2; TECT2; TECT2_HUMAN; Tectonic family member 2; Tectonic-2.
结构蛋白家族2抗体
说 明 书 0.2ml
研究领域 细胞生物 免疫学 发育生物学
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat,
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=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 74kDa
细胞定位 细胞浆 细胞膜
性 状 Lyophilized or Liquid
浓 度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from Human TCTN2
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2抗体 产品介绍 background:
Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8) [MIM:613885]. A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Function:
Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for hedgehog signalingtransduction (By similarity).
Subunit:
Part of the tectonic-like complex (also named B9 complex)(By similarity).
Subcellular Location:
Membrane; Single-pass type I membraneprotein (Potential). Cytoplasm, cytoskeleton, cilium basal body (Bysimilarity). Note=Localizes at the transition zone, a regionbetween the basal body and the ciliary axoneme (By similarity).
DISEASE:
Defects in TCTN2 are the cause of Meckel syndrome type 8(MKS8) [MIM:613885]. A disorder characterized by a combination ofrenal cysts and variably associated features includingdevelopmental anomalies of the central nervous system (typicallyencephalocele), hepatic ductal dysplasia and cysts, andpolydactyly.
Note=Defects in TCTN2 may be a cause of Joubert syndrome,a disorder presenting with cerebellar ataxia, oculomotor apraxia,hypotonia, neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermianhypoplasia/aplasia, thickened and reoriented superior cerebellarpeduncles, and an abnormally large interpeduncular fossa, givingthe appearance of a molar tooth on transaxial slices (molar toothsign). Additional variable features include retinal dystrophy andrenal disease.
Similarity:
Belongs to the tectonic family.
Database links:
UniProtKB/Swiss-Prot: Q96GX1.1
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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