梅克尔-格鲁伯综合征相关蛋白抗体
规格：1尘驳/1尘濒
英文名： MKS1
别名： MES; B8d3; BBS13; Dysencephalia splanchnocystica; FABB proteome like protein; FLJ20345; Gruber syndrome; Meckel gruber syndrome; Meckel gruber syndrome type 1; Meckel syndrome; Meckel syndrome type 1;
分子量： 64kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MKS1
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep,
细胞定位：细胞浆
梅克尔-格鲁伯综合征相关蛋白抗体产物介绍：background: MKS1 is involved in centrosome migration to the apical cell surface during early ciliogenesis. It is required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. It is also required for cell branching morphology. 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. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. 梅克尔-格鲁伯综合征相关蛋白抗体Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA. Subcellular Location: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, centrosome. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme DISEASE: Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1) [MIM:249000]. MKS1 is an autosomal recessive 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. Defects 梅克尔-格鲁伯综合征相关蛋白抗体in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13) [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. Similarity: Contains 1 B9 domain. Database links: UniProtKB/Swiss-Prot: Q9NXB0.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
梅克尔-格鲁伯综合征相关蛋白抗体产物应用：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 结合蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid