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EDARADD
Identifiers
Aliases	EDARADD, ECTD11A, ECTD11B, ED3, EDA3, EDAR-associated death domain, EDAR associated death domain
External IDs	OMIM: 606603; MGI: 1931001; HomoloGene: 15430; GeneCards: EDARADD; OMA:EDARADD - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	236,502,915 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	12,535,319 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; sural nerve; ; testicle; ; gonad; ; olfactory zone of nasal mucosa; ; body of stomach; ; skin of abdomen; ; mucosa of esophagus; ; granulocyte; ; skin of leg;
	Top expressed in
	hair follicle; ; Rostral migratory stream; ; conjunctival fornix; ; medullary collecting duct; ; epithelium of lens; ; pharynx; ; iris; ; condyle; ; fossa; ; vestibular sensory epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; cytosol;
Biological process	multicellular organism development; cell differentiation; tumor necrosis factor-mediated signaling pathway; signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	128178
	171211
	ENSG00000186197
	ENSMUSG00000095105
	Q8WWZ3
	Q8VHX2; Q5D0F1
	NM_145861; NM_080738
	NM_133643
	NP_542776; NP_665860
	NP_598398
	Wikidata
View/Edit Human	View/Edit Mouse

Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.^[5]^[6]

Function

This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.^[6]