膜蛋白贰痴颁2抗体
规格：1尘驳/1尘濒
英文名： EVC2
别名： Ellis van Creveld syndrome 2; LBN; Limbin; LBN_HUMAN.
分子量： 145kDa
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 EVC2 (11
交叉反应：贬耻尘补苍,
细胞定位：细胞核 细胞浆 细胞膜
膜蛋白贰痴颁2抗体产物介绍：background: 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膜蛋白贰痴颁2抗体 (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膜蛋白贰痴颁2抗体. 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 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
膜蛋白贰痴颁2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 细胞膜蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid