tumor necrosis factor receptor superfamily member EDAR; Anhidrotic ectodysplasin receptor 1; ectodysplasin-A receptor; EDA-A1 receptor; ectodermal dysplasia receptor; downless homolog (EDAR, DL)

Function

• receptor for EDA isoform A1, but not for EDA isoform A2
• mediates activation of NF-kappa-B & JNK
• may promote caspase-independent cell death
• binds to EDARADD.
• associates with TRAF1, TRAF2, TRAF3 & NIK

Structure

• contains 1 death domain
• contains 3 TNFR-Cys repeats

Compartment

membrane

Expression

• detected in fetal kidney, lung, skin & cultured neonatal epidermal keratinocytes
• not detected in lymphoblast & fibroblast cell lines
• found in craniofacial tissues from embryonic day 42-53
• expressed in fetal skin 11 & 15 weeks after gestation

Pathology

• defects in EDAR are a cause of:
  • anhidrotic ectodermal dysplasia
  • ectodermal dysplasia type 3

More general terms

• tumor necrosis factor [TNF] receptor family
• phosphoprotein
• glycoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1091
• OMIM: https://mirror.omim.org/entry/129490
• OMIM: https://mirror.omim.org/entry/224900
• OMIM: https://mirror.omim.org/entry/604095
• UniProt: http://www.uniprot.org/uniprot/Q9UNE0.html