Ectodysplasin-A

Definition:

Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R. May also play a role in cell adhesion (By similarity).; [Isoform 1]: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.; [Isoform 3]: Binds only to the receptor EDA2R.

References:

[1]. Wenjing Shen, et al. Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. PLoS One. 2016 May 4;11(5):e0154884. [Content Brief]

[2]. J Kere, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996 Aug;13(4):409-16. [Content Brief]

[3]. M Yan, et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science. 2000 Oct 20;290(5491):523-7. [Content Brief]

[4]. Kang Yu, et al. Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2021 Nov;9(11):e1824. [Content Brief]

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