EDAR
Developmental stage
Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation.
Function
Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
Involvement in disease
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ECTD10A
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
None
The disease is caused by variants affecting the gene represented in this entry.
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ECTD10B
A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
DL, EDAR, Tumor necrosis factor receptor superfamily member EDAR, Anhidrotic ectodysplasin receptor 1, Downless homolog, EDA-A1 receptor, Ectodermal dysplasia receptor, Ectodysplasin-A receptor