Abstract
Ectodysplasin, a member of the tumor necrosis factor family, is encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that differ only by an insertion of two amino acids. This insertion functions to determine receptor binding specificity, such that EDA-A1 binds only the receptor EDAR, whereas EDA-A2 binds only the related, but distinct, X-linked ectodysplasin-A2 receptor (XEDAR). In situ binding and organ culture studies indicate that EDA-A1 and EDA-A2 are differentially expressed and play a role in epidermal morphogenesis.
MeSH terms
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Amino Acid Sequence
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Amino Acid Substitution
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Animals
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Binding Sites
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Cell Line
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DNA-Binding Proteins / metabolism
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Ectodermal Dysplasia / genetics
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Ectodysplasins
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Epidermis / embryology
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Epidermis / metabolism*
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Humans
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I-kappa B Proteins*
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In Situ Hybridization
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Ligands
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Membrane Proteins / chemistry*
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Membrane Proteins / metabolism*
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Mice
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Models, Molecular
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Molecular Sequence Data
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Morphogenesis
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NF-KappaB Inhibitor alpha
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NF-kappa B / metabolism
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Phosphorylation
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Point Mutation
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Protein Conformation
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Proteins / metabolism
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Receptors, Cell Surface / chemistry
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Receptors, Cell Surface / genetics
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Receptors, Cell Surface / metabolism*
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Recombinant Fusion Proteins / metabolism
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Signal Transduction
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TNF Receptor-Associated Factor 6
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Transfection
Substances
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DNA-Binding Proteins
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EDA protein, human
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Ectodysplasins
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Eda protein, mouse
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I-kappa B Proteins
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Ligands
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Membrane Proteins
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NF-kappa B
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NFKBIA protein, human
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Nfkbia protein, mouse
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Proteins
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Receptors, Cell Surface
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Recombinant Fusion Proteins
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TNF Receptor-Associated Factor 6
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NF-KappaB Inhibitor alpha