EDAR-Associated Death Domain Protéines (EDARADD)

EDARADD was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands.

afficher tous les protéines Gène GeneID UniProt
Souris EDARADD EDARADD 171211  
Humain EDARADD EDARADD 128178 Q8WWZ3
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$5,960.83
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Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$5,960.83
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$814.00
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Levure Cynomolgus His tag   1 mg Connectez-vous pour afficher 60 to 71 Days
$2,504.33
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Plus protéines pour EDAR-Associated Death Domain (EDARADD) partenaires d'interaction

Mouse (Murine) EDAR-Associated Death Domain (EDARADD) interaction partners

  1. Mouse models with HED (Montrer EDA Protéines) also carry Eda (Montrer EDA Protéines), Edar (Montrer EDAR Protéines) or Edaradd mutations and have defects that map to the same structures.We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda (Montrer EDA Protéines) and Edar (Montrer EDAR Protéines) mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines

  2. crinkled binds EDAR (Montrer EDAR Protéines) through a homotypic death domain interaction and mediates engagement of the NF-kappaB (Montrer NFKB1 Protéines) pathway, possibly by recruiting TRAF2 (Montrer TRAF2 Protéines) to the receptor-signaling complex.

  3. level of activation of Edar (Montrer EDAR Protéines) thus determines cusp number and tooth number during tooth development

Human EDAR-Associated Death Domain (EDARADD) interaction partners

  1. detected a novel missense mutation c.367G>A (p.Asp123Asn) in the death domain of the gene EDARADD, which co-segregated with hypohidrotic ectodermal dysplasia in the affected family. This mutation led to an impaired ability of EDARADD to activate NF-kappaB (Montrer NFKB1 Protéines) signaling.

  2. The study data demonstrate an association between SNP rs3916983 of the EDARADD gene and non-syndromic hypodontia in Chinese Han individuals.

  3. The phenotypes associated with EDA1 (Montrer EDA Protéines), EDAR (Montrer EDAR Protéines), and EDARADD mutations were indistinguishable

  4. a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2 (Montrer AXIN2 Protéines), MSX1 (Montrer MSX1 Protéines), and PAX9 (Montrer PAX9 Protéines) genes

  5. Results demonstrate that EDARADD mutations are not a frequent cause of hypohidrotic ectodermal dysplasia, while mutations in TRAF6 (Montrer TRAF6 Protéines), TAB2 (Montrer TAB2 Protéines) and TAK1 (Montrer MAP3K7 Protéines) may not be implicated in this disease.

  6. interacts with the death domain of Edar (Montrer EDAR Protéines) and links the receptor to downstream signalling pathways

  7. crinkled binds EDAR (Montrer EDAR Protéines) through a homotypic death domain interaction and mediates engagement of the NF-kappaB (Montrer NFKB1 Protéines) pathway, possibly by recruiting TRAF2 (Montrer TRAF2 Protéines) to the receptor-signaling complex

Profil protéine EDARADD

Profil protéine

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.

Gene names and symbols associated with EDARADD

  • EDAR (ectodysplasin-A receptor)-associated death domain (Edaradd)
  • EDAR associated death domain (EDARADD)
  • 1810032E07Rik Protéine
  • 5830469M23Rik Protéine
  • A630043P06 Protéine
  • cr Protéine
  • ECTD11A Protéine
  • ECTD11B Protéine
  • ED3 Protéine
  • EDA3 Protéine

Protein level used designations for EDARADD

EDAR-associated death domain protein , crinkled , ectodysplasin-A receptor-associated adapter protein , crinkled homolog , ectodysplasia A receptor associated death domain , ectodysplasin A receptor associated adapter protein

GENE ID SPECIES
171211 Mus musculus
128178 Homo sapiens
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