Ectodysplasin-A (EDA) gene spans over 400 kb of genomic sequence on human X-chromosome, contains 12 exons and generates at least 8 transcript variants.
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|Synonym:||DL, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3,FLJ94390, HRM1|
|Tag:||Mouse IgG2a Fc|
|Construction:||Human EDAR (E27-H183)-mouse IgG2a Fc|
|MW (calculated):||44,118 daltons|
|MW (SDS-PAGE):||47 Kd|
|Abs 0.1% (= 1 mg/ml):||1.135|
Ectodysplasin-A (EDA) gene spans over 400 kb of genomic sequence on human X-chromosome, contains 12 exons and generates at least 8 transcript variants. Yet only two isoforms are known to code for functional proteins, the EDA (319 aa) and EDA-A2 (389 aa) which differ only by two amino acids in the TNF homologous domain, yet each binds to EDAR and XEDAR, respectively.
The EDA was identified as the gene mutated in the human X-linked hypohidrotic ectodermal dysplasias (DED, or EDA MIM305100), the most common form of the EDs. Cloning of the mouse ortholog lead to gene defective in the Tabby mice along with the causative genes of autosomal forms of HED, the EDAR in downless mice and EDARADD, in crinkled mice. Hence mutations along the signal pathway of EDA-EDAR-EDARADD all cause HED. The revelation that EDA pathway is linked to NFκB activation help to understand that mice with mutations in core proteins of the NFκB pathway (such as TRAF6 and NEMO) exhibit not only the inflammation problems but al HED syndromes.
Importantly, a series of reagents, such as the EDA Fc fusion protein (like our P7030F), and agonist anti-EDAR antibodies, have been shown to permanently rescue the HED phenotype in both mouse and dogs.
Amino Acid Sequence.
1. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D. (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet., 13:409–416.
2. Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 32:70-72.
3. Gaide O, Schneider P. (2003) Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med. 9:614-618