本公司经销EVC2，膜蛋白EVC2抗体，克隆类型为polyclonal，宿主来源是Rabbit，EVC2膜蛋白EVC2抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-6638R
英文名称：Anti-EVC2
中文名称：膜蛋白EVC2抗体
其他名称：名Ellis van Creveld syndrome 2; LBN; Limbin.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 144kDa
纯化方法：affinity purified by Protein A
交叉反应：hu
产品介绍：EVC2 is an integral membrane protein that plays a vital role in bone formation ａnd skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome （EVC）, 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 dysplastic nails ａnd teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.Function : Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation ａnd skeletal development.Subunit : Interacts with EVC.Subcellular Location : Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.Tissue Specificity : Found in the heart, placenta, lung, liver, skeletal muscle, kidney ａnd pancreas.DISEASE : Defects in EVC2 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 dysplastic nails ａnd teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.Defects in EVC2 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: Q86UK5.1