Ectodysplasin A

Alternative Names

  • EDA
  • Ectodysplasin
  • EDA1 Gene
  • ED1 Gene
  • ED1
  • Ectodysplasin A1 Isoform
  • EDA-A1
  • Ectodysplasin A2 Isoform
  • EDA-A2
Back to search Result
OMIM Number

300451

NCBI Gene ID

1896

Uniprot ID

Q92838

Length

423,406 bases

No. of Exons

13

No. of isoforms

9

Protein Name

Ectodysplasin-A

Molecular Mass

41294 Da

Amino Acid Count

391

Genomic Location

chrX:69,616,067-70,039,472

Gene Map Locus
Xq13.1

Description

The EDA gene codes for the Ectodysplasin-A protein that plays a major role in the embryonic development of ectodermal appendages.  These ectodermal organs include hair, teeth, and the exocrine glands.  The development of these organs depends on a sequence of interactions between the epithelial and mesenchymal layers, and EDA is critical for these interactions.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001399.4:c.463C>T Egypt; LebanonNC_000023.11:g.69957093C>TPathogenicPathogenicEctodermal Dysplasia 1, Hypohidrotic, X-LinkedNG_009809.2:g.346027C>T; NM_001399.4:c.463C>T ; NP_001390.1:p.Arg155Cys13263031211035
NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGGEgyptchrX:70027993:70028010Likely PathogenicEctodermal Dysplasia 1, Hypohidrotic, X-LinkedNG_009809.2:g.416927_416944delTCCTCCTGGTCCTCAAGG ; NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGG; NP_001390.1:p.Pro222_Gly227del
© CAGS 2024. All rights reserved.