Publication Date:
2000-10-20
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yan, M -- Wang, L C -- Hymowitz, S G -- Schilbach, S -- Lee, J -- Goddard, A -- de Vos, A M -- Gao, W Q -- Dixit, V M -- New York, N.Y. -- Science. 2000 Oct 20;290(5491):523-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Oncology, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11039935" target="_blank"〉PubMed〈/a〉
Keywords:
Amino Acid Sequence
;
Amino Acid Substitution
;
Animals
;
Binding Sites
;
Cell Line
;
DNA-Binding Proteins/metabolism
;
Ectodermal Dysplasia/genetics
;
Ectodysplasins
;
Epidermis/embryology/*metabolism
;
Humans
;
*I-kappa B Proteins
;
In Situ Hybridization
;
Ligands
;
Membrane Proteins/*chemistry/*metabolism
;
Mice
;
Models, Molecular
;
Molecular Sequence Data
;
Morphogenesis
;
NF-kappa B/metabolism
;
Phosphorylation
;
Point Mutation
;
Protein Conformation
;
Proteins/metabolism
;
Receptors, Cell Surface/chemistry/genetics/*metabolism
;
Recombinant Fusion Proteins/metabolism
;
Signal Transduction
;
TNF Receptor-Associated Factor 6
;
Transfection
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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