EDARADD

GENE INFORMATION

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Gene name

EDARADD

Synonyms

Description

EDAR-associated death domain (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

q42.3

Chromosome location (bp)

236511562 - 236648214

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000186197 (version 75.37)

Entrez gene

128178

UniProt

Q8WWZ3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WWZ3

Antibodypedia

EDARADD antibodies
 

PROTEIN VIEW

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EDARADD-001
 
EDARADD-002
 
EDARADD-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EDARADD-001 ENSP00000335076
ENST00000334232
Q8WWZ3
Show all »
Show » Show » 215 24.8 No 0
EDARADD-002 ENSP00000352320
ENST00000359362
Q8WWZ3
Show all »
Show » Show » 205 23.7 No 0
EDARADD-003 ENSP00000405815
ENST00000439430
B1AL55
Show all »
Show » Show » 84 9.3 No 0