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Genetics Home Reference: your guide to understanding genetic conditions
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EDARADD

Reviewed August 2006

What is the official name of the EDARADD gene?

The official name of this gene is “EDAR-associated death domain.”

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

What is the normal function of the EDARADD gene?

The EDARADD gene provides instructions for making a protein called the EDAR-associated death domain protein. 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 EDARADD protein interacts with another protein, called the ectodysplasin A receptor, which is produced from the EDAR gene. This interaction occurs at a region called the death domain that is present in both proteins. The EDARADD protein acts as an adapter, which means it assists the ectodysplasin A receptor in triggering chemical signals within cells. These signals 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 EDARADD gene related to health conditions?

hypohidrotic ectodermal dysplasia - caused by mutations in the EDARADD gene

A mutation in the EDARADD gene is an infrequent cause of the autosomal recessive form of hypohidrotic ectodermal dysplasia. With autosomal recessive inheritance, two copies of the EDARADD gene are mutated in each cell.

The EDARADD mutation responsible for hypohidrotic ectodermal dysplasia changes a single protein building block (amino acid) in the EDARADD protein. This genetic change replaces the amino acid glutamine with the amino acid lysine at protein position 142 (written as Glu142Lys). Because this mutation occurs in the death domain, it prevents the EDARADD protein from interacting effectively with the ectodysplasin A receptor. As a result, the receptor probably cannot trigger signals needed for ectoderm-mesoderm interactions and the normal development of hair follicles, sweat glands, and other ectodermal structures. This disruption in ectodermal development leads to the characteristic features of hypohidrotic ectodermal dysplasia.

Where is the EDARADD gene located?

Cytogenetic Location: 1q42.3

Molecular Location on chromosome 1: base pairs 236,394,379 to 236,484,707

The EDARADD gene is located on the long (q) arm of chromosome 1 at position 42.3.

The EDARADD gene is located on the long (q) arm of chromosome 1 at position 42.3.

More precisely, the EDARADD gene is located from base pair 236,394,379 to base pair 236,484,707 on chromosome 1.

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 EDARADD?

You and your healthcare professional may find the following resources about EDARADD 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 EDARADD gene or gene products?

  • ectodysplasia A receptor associated death domain
  • ectodysplasin A receptor associated adapter protein
  • EDAD_HUMAN

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 EDARADD?

amino acid ; autosomal ; autosomal recessive ; cell ; domain ; dysplasia ; ectoderm ; embryo ; embryonic ; gene ; glutamine ; inheritance ; kb ; lysine ; mesoderm ; mutation ; protein ; receptor ; recessive

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

References

  • 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)
  • Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 Dec 20-27;414(6866):913-6. (http://www.ncbi.nlm.nih.gov/pubmed/11780064?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/128178)
  • 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)

 

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: October 9, 2014