ectodysplasin-A; ectodermal dysplasia protein; EDA protein; contains: ectodysplasin-A, membrane form; contains: ectodysplasin-A, secreted form (EDA, ED1, EDA2)

Function

• seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs
• isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR
• processing by furin produces a secreted form
• homotrimer
• homotrimers may then dimerize & form higher order oligomers

Structure

• N-glycosylated
• belongs to the tumor necrosis factor family
• contains 1 collagen-like domain

Compartment

• cell membrane; single-pass type 2 membrane protein
• ectodysplasin-A, secreted form: secreted

Alternative splicing

• named isoforms=8
• additional isoforms seem to exist
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• not abundant
• expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands
• also expressed in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine & umbilical chord

Pathology

• defects in EDA are the cause of
  • ectodermal dysplasia type 1
  • tooth agenesis selective X-linked type 1

More general terms

• membrane protein
• glycoprotein

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=1896
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1896
• OMIM: https://mirror.omim.org/entry/300451
• OMIM: https://mirror.omim.org/entry/305100
• OMIM: https://mirror.omim.org/entry/313500
• UniProt: http://www.uniprot.org/uniprot/Q92838.html