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Description for Protein EDARADD

EDAR-associated death domain
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • DEATH: DEATH domain, found in proteins involved in cell death (apoptosis).
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    EDAR associated death domain isoform B; Ectodysplasin A receptor associated adapter protein; Crinkled homolog; EDAR associated death domain isoform A
    Approved Symbol:
    EDARADD
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Ectodermal dysplasia, anhidrotic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05965 Entrez Gene ID: 128178 OMIM ID: 606603 Swissprot Accession: Q8WWZ3; A8K7B5;