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