EDARADD

EDAR-associated death domain
Identifiers
Symbols	EDARADD ; ECTD11A; ECTD11B; ED3; EDA3
External IDs	OMIM: 606603 MGI: 1931001 HomoloGene: 15430 GeneCards: EDARADD Gene
Gene ontology Molecular function • protein binding Cellular component • cytoplasm Biological process • hair follicle development • signal transduction • cell differentiation • odontogenesis of dentin-containing tooth • trachea gland development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	128178	171211
Ensembl	ENSG00000186197	ENSMUSG00000095105
UniProt	Q8WWZ3	Q5D0F1
RefSeq (mRNA)	NM_080738	NM_133643
RefSeq (protein)	NP_542776	NP_598398
Location (UCSC)	Chr 1: 236.35 – 236.48 Mb	Chr 13: 12.47 – 12.52 Mb
PubMed search	[1]	[2]

Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.

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.

Interactions

EDARADD has been shown to interact with TRAF2.

External links

• GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia