Ectodysplasin A

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Expression 6 Pathology 7 More General Terms 8 Additional Terms 9 Internet Database 10 References

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)

Internet Database

Entrez gene: 1896
Kegg: [1]
OMIM: 300451
OMIM: 305100
OMIM: 313500
Prosite: [2]
Prosite: [3]
UniProt: [4]

References

1. UniProt [5]
2. GeneReviews [6]

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