FITC标记的膜蛋白EVC2抗体-抗体-抗体-生物在线
FITC标记的膜蛋白EVC2抗体

FITC标记的膜蛋白EVC2抗体

商家询价

产品名称： FITC标记的膜蛋白EVC2抗体

英文名称： Anti-EVC2/FITC

产品编号： HZ-6638R-FITC

产品价格： null

产品产地： 中国/上海

品牌商标： HZbscience

更新时间： 2023-08-17T10:24:20

使用范围： ICC=1:50-200 IF=1:50-200

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 Rabbit Anti-EVC2/FITC Conjugated antibody

FITC标记的膜蛋白EVC2抗体

 

英文名称 Anti-EVC2/FITC
中文名称 FITC标记的膜蛋白EVC2抗体
别    名 Ellis van Creveld syndrome 2; LBN; Limbin; LBN_HUMAN.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 细胞生物  细胞膜蛋白  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, 
产品应用 ICC=1:50-200 IF=1:50-200  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 145kDa
细胞定位 细胞膜 
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human EVC2 (116-165aa)
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
产品介绍 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 (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

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications

EVC2是一种完整的膜蛋白，在骨形成和骨骼发育中起着至关重要的作用。EVC2的缺陷是Ellis van Creveld综合征（EVC）的原因，也称为软骨外胚层发育不良。EVC是一种常染色体隐性遗传障碍，其特征是临床上四分之一的软骨营养不良、多指畸形、外胚叶发育不良和心脏异常。患者表现为短肢侏儒症、短肋骨、轴后多指畸形和发育不良的指甲和牙齿。先天性心脏病，最常见的房室间隔缺损，观察到60%的受影响的个人。