软骨外胚层发育**相关蛋白抗体
规格：1尘驳/1尘濒
英文名： EVC1
别名： Ellis van Creveld syndrome DWF 1; DWF1; Ellis van Creveld syndrome protein; Ellis-van Creveld syndrome; EVC; EVC1; EVC 1; EVC-1; EVCL; MGC105107; EVC_HUMAN.
分子量： 112kDa
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 EVC1
交叉反应：贬耻尘补苍,
细胞定位：细胞膜
软骨外胚层发育**相关蛋白抗体产物介绍：background: EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects. Function: Ellis van Creveld syndrome is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, 软骨外胚层发育**相关蛋白抗体are observed in 60% of affected individuals. Defects in this protein are a cause of Ellis van Creveld syndrome (EVC). Subunit: Interacts with EVC2 (By similarity). Subcellular Location: Membrane; Single pass membrane protein Tissue Specificity: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung. DISEASE: Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and 软骨外胚层发育**相关蛋白抗体dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. Database links: UniProtKB/Swiss-Prot: P57679.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
软骨外胚层发育**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 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