EDA
Function
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity).
Isoform 1
Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.
Isoform 3
Binds only to the receptor EDA2R.
Involvement in disease
Ectodermal dysplasia 1, hypohidrotic, X-linked
XHED
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
None
The disease is caused by variants affecting the gene represented in this entry.
Tooth agenesis, selective, X-linked, 1
STHAGX1
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Processing by furin produces a secreted form.
Sequence Similarities
Belongs to the tumor necrosis factor family.
Tissue Specificity
Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.
Cellular localization
- Cell membrane
- Single-pass type II membrane protein
- Ectodysplasin-A, secreted form
- Secreted
Alternative names
ED1, EDA2, EDA, Ectodysplasin-A, Ectodermal dysplasia protein, EDA protein