EDA Gene

The EDA gene (EDA stands for "ectodysplasin A") is a protein-coding gene located on chromosome Xq13.1. Several transcript variants have been found for this gene, encoding many different ectodysplasin isoforms. Isoform 1 binds only to the receptor EDAR, whereas isoform 3 binds exclusively to the receptor EDA2R.

Ectodysplasin A is a type II membrane protein that can be cleaved by furin to form a secreted form. The protein belongs to the tumor necrosis factor family and acts as a homotrimer. It may be involved in cell-cell signaling during ectodermal organ development. Ectodysplasin A further functions as a ligand that activates the DEATH domain-containing receptors EDAR and EDA2R. possibly the protein also plays a role in cell adhesion.

Defects in the EDA gene are associated with.

• Anhidrotic ectodermal dysplasia (syn: X-linked hypohidrotic ectodermal dysplasia).
• Tooth agenesis, selective, X-linked

1. Abinun M et al (1996) Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Europ J Pediat 155: 146-147.
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3. Casal ML et al (2007) Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81: 1050-1056.
4. Clarke A et al (1987) X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Hum. Genet. 75: 378-380.
5. Cluzeau C et al. (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 32: 70-77.
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8. Lexner MO et al (2008) X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet 74: 252-259.
9. van Steensel MA M et al. (2009) Lelis syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. (Letter) Am. J Med Genet 149A: 1612-1613.
10. Zonana J et al (1987) Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. Am J Med Genet 35: 132-135.