结构蛋白家族2抗体
规格：1mg/1ml
英文名： TCTN2
别名： C12orf38; FLJ12975; MKS8; OTTHUMP00000239215; OTTHUMP00000239216; Tctn2; TECT2; TECT2_HUMAN; Tectonic family member 2; Tectonic-2.
分子量： 74kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from Human TCTN2
交叉反应：Human, Mouse, Rat,
细胞定位：细胞浆 细胞膜
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结构蛋白家族2抗体 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,结构蛋白家族2抗体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.
结构蛋白家族2抗体产品应用：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.
研究领域：细胞生物 **学 发育生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid