Ectodysplasia A Receptor

Alternative Names

  • EDAR
  • Ectodysplasis 1, Anhidrotic Receptor
  • Downless, Mouse, Homolog of
  • DL
  • Ectodysplasin A1 Isoform Receptor
  • EDA-A1 Receptor
  • EDA-A1R
  • EDA1R
Back to search Result
OMIM Number

604095

NCBI Gene ID

10913

Uniprot ID

Q9UNE0

Length

94,902 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Tumor necrosis factor receptor superfamily member EDAR

Molecular Mass

48582 Da

Amino Acid Count

448

Genomic Location

chr2:108,894,471-108,989,372

Gene Map Locus
2q13

Description

The EDAR gene codes for a death domain protein of the tumor necrosis factor receptor family. The protein is expected to play a major role in hair follicle development. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022336.3:c.803+1G>ALebanonchr2:108910459PathogenicPathogenicEctodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal RecessiveNG_008257.1:g.83914G>A ; NM_022336.3:c.803+1G>A7970444375860
© CAGS 2024. All rights reserved.