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Genetics Home Reference: your guide to understanding genetic conditions
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EDA

Reviewed August 2006

What is the official name of the EDA gene?

The official name of this gene is “ectodysplasin A.”

EDA is the gene's official symbol. The EDA gene is also known by other names, listed below.

What is the normal function of the EDA gene?

The EDA gene provides instructions for making a protein called ectodysplasin A. This protein is part of a signaling pathway that plays an important role in development before birth. Specifically, it is critical for interactions between two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.

The EDA gene provides instructions for producing many slightly different versions of ectodysplasin A. One version, ectodysplasin A1, interacts with a protein called the ectodysplasin A receptor (produced from the EDAR gene). On the cell surface, ectodysplasin A1 attaches to this receptor like a key in a lock. When these two proteins are connected, they trigger a series of chemical signals that affect cell activities such as division, growth, and maturation. Before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.

How are changes in the EDA gene related to health conditions?

hypohidrotic ectodermal dysplasia - caused by mutations in the EDA gene

More than 80 different mutations in the EDA gene have been identified in people with hypohidrotic ectodermal dysplasia. These mutations cause the X-linked form of the disorder, which accounts for 95 percent of all cases of hypohidrotic ectodermal dysplasia. (X-linked disorders are caused by mutations in genes on the X chromosome, one of the two sex chromosomes.)

Some mutations in the EDA gene change single DNA building blocks (base pairs), whereas other mutations insert or delete genetic material in the gene. These changes lead to the production of a nonfunctional version of the ectodysplasin A protein. This abnormal protein cannot trigger chemical signals needed for normal interactions between the ectoderm and the mesoderm. Without these signals, hair follicles, teeth, sweat glands, and other ectodermal structures do not form properly, leading to the characteristic features of hypohidrotic ectodermal dysplasia.

Where is the EDA gene located?

Cytogenetic Location: Xq12-q13.1

Molecular Location on the X chromosome: base pairs 69,616,066 to 70,039,471

The EDA gene is located on the long (q) arm of the X chromosome between positions 12 and 13.1.

The EDA gene is located on the long (q) arm of the X chromosome between positions 12 and 13.1.

More precisely, the EDA gene is located from base pair 69,616,066 to base pair 70,039,471 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about EDA?

You and your healthcare professional may find the following resources about EDA helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EDA gene or gene products?

  • Ectodermal dysplasia protein
  • ectodysplasin
  • ectodysplasin-A
  • ED1
  • ED1-A1
  • EDA1
  • EDA-A1
  • EDA-A2
  • EDA_HUMAN
  • HED
  • XHED
  • XLHED

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding EDA?

cell ; chromosome ; DNA ; dysplasia ; ectoderm ; embryo ; embryonic ; gene ; kb ; ligand ; mesoderm ; protein ; receptor ; sex chromosomes

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Courtney JM, Blackburn J, Sharpe PT. The Ectodysplasin and NFkappaB signalling pathways in odontogenesis. Arch Oral Biol. 2005 Feb;50(2):159-63. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15721144?dopt=Abstract)
  • Drögemüller C, Distl O, Leeb T. X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genet Sel Evol. 2003;35 Suppl 1:S137-45. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12927086?dopt=Abstract)
  • Gaide O. New developments in the history of hypohidrotic ectodermal dysplasia. Dermatology. 2003;207(2):123-4. (http://www.ncbi.nlm.nih.gov/pubmed/12920356?dopt=Abstract)
  • Gene Review: Hypohidrotic Ectodermal Dysplasia (http://www.ncbi.nlm.nih.gov/books/NBK1112)
  • Hashiguchi T, Yotsumoto S, Kanzaki T. Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. Exp Dermatol. 2003 Aug;12(4):518-22. (http://www.ncbi.nlm.nih.gov/pubmed/12930312?dopt=Abstract)
  • Mikkola ML, Thesleff I. Ectodysplasin signaling in development. Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12787560?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1896)
  • Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12351572?dopt=Abstract)
  • Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2001 May;9(5):355-63. (http://www.ncbi.nlm.nih.gov/pubmed/11378824?dopt=Abstract)
  • Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002;43(1):97-107. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12084975?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2006
Published: December 16, 2014