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Concept information

Preferred term

Ectodysplasins  

Type

  • mesh:Descriptor

Definition

  • Transmembrane proteins belonging to the tumor necrosis factor superfamily that play an essential role in the normal development of several ectodermally derived organs. Several isoforms of the ectodysplasins exist due to multiple ALTERNATIVE SPLICING of the MRNA for the protein. The isoforms ectodysplasin A1 and ectodysplasin A2 are considered biologically active and each bind distinct ECTODYSPLASIN RECEPTORS. Genetic mutations that result in loss of function of ectodysplasin result in ECTODERMAL DYSPLASIA 1, ANHIDROTIC. An ectodysplasin isoform with specificity for the XEDAR RECEPTOR. An ectodysplasin isoform with specificity for the EDAR RECEPTOR.

Entry terms

  • Ectodysplasin
  • Ectodysplasin-A

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-N8FRRLNB-B

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RDF/XML TURTLE JSON-LD Created 7/5/06, last modified 6/22/15