Overview

  • Product nameHuman EVC2 peptide

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceC-LNAKKAMRALGMD
    • Amino acids1216 to 1228

Specifications

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.

  • Applications

    Blocking

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

General Info

  • Alternative names
    • Ellis van Creveld syndrome 2
    • LBN
    • Limbin
  • RelevanceEVC2 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.
  • Cellular localizationMembrane; Multi-pass membrane protein

References for Human EVC2 peptide (ab22981)

ab22981 has not yet been referenced specifically in any publications.

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