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EDARADD

EDARADD
Identifiers
Aliases EDARADD, ECTD11A, ECTD11B, ED3, EDA3, EDAR-associated death domain, EDAR associated death domain
External IDs MGI: 1931001 HomoloGene: 15430 GeneCards: EDARADD
RNA expression pattern
PBB GE EDARADD 217294 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_145861
NM_080738

NM_133643

RefSeq (protein)

NP_542776
NP_665860

NP_598398

Location (UCSC) Chr 1: 236.35 – 236.48 Mb Chr 13: 12.47 – 12.52 Mb
PubMed search

NM_145861
NM_080738

NM_133643

NP_542776
NP_665860

NP_598398

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.


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Wikipedia

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