製品の概要

  • 製品名Human EVC2 peptide

製品の詳細

  • 由来Synthetic
  • アミノ酸配列
    • 生物種Human
    • 配列C-LNAKKAMRALGMD
    • 領域1216 to 1228

特性

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.

  • アプリケーション

    Blocking

  • 製品の状態Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

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

関連情報

  • 別名
    • Ellis van Creveld syndrome 2
    • LBN
    • Limbin
  • 関連性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.
  • 細胞内局在Membrane; Multi-pass membrane protein

Human EVC2 peptide (ab22981) 使用論文

ab22981 has not yet been referenced specifically in any publications.

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