ectodysplasin-A receptor-associated adapter protein; EDAR-associated death domain protein; protein crinkled homolog (EDARADD)

Function

• adapter protein that interacts with EDAR DEATH domain & couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs
• mediates the activation of NF-kappa-B
• self-associates & binds EDAR, TRAF1, TRAF2 & TRAF3

Structure

contains 1 death domain

Compartment

cytoplasm (probable)

Alternative splicing

named isoforms=2; A, B

Expression

• detected in adult pancreas, placenta & fetal skin
• expressed at lower levels in lung, thymus, prostate & testis

Pathology

• defects in EDARADD are a cause of anhidrotic ectodermal dysplasia

More general terms

• pro apoptotic protein

Additional terms

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

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=128178
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:128178
• OMIM: https://mirror.omim.org/entry/224900
• OMIM: https://mirror.omim.org/entry/606603
• UniProt: http://www.uniprot.org/uniprot/Q8WWZ3.html