EDARADD EDAR associated via death domain

Gene ID: 128178, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CR; ED3; EDA3; ECTD11A; ECTD11B

Summary

This gene was identified by its association with 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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MedGen: C3888065OMIM: 129490GeneReviews: Hypohidrotic Ectodermal Dysplasia	See labs
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MedGen: C3887494OMIM: 224900GeneReviews: Hypohidrotic Ectodermal Dysplasia	See labs
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MedGen: C3541517OMIM: 614940GeneReviews: Not available	See labs
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MedGen: C3539920OMIM: 614941GeneReviews: Hypohidrotic Ectodermal Dysplasia	See labs

Genomic context

Location:: 1q42.3-q43

Sequence:: Chromosome: 1; NC_000001.11 (236348259..236484930)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for EDARADD variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
EDARADD database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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