概述

  • 产品名称人EVC2肽

描述

  • 性质Synthetic
  • 氨基酸序列
    • 种属Human
    • 序列C-LNAKKAMRALGMD
    • 氨基酸1216 to 1228

技术指标

Our Abpromise guarantee covers the use of ab22981 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Blocking

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

常规信息

  • 别名
    • Ellis van Creveld syndrome 2
    • LBN
    • Limbin
  • 相关性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. Defects in Defects in EVC2 are also a cause of acrofacial dysostosis Weyers type (WAD), 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.
  • 细胞定位Membrane; Multi-pass membrane protein

Human EVC2 peptide (ab22981)参考文献

ab22981 has not yet been referenced specifically in any publications.

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