Human EDA2R/TNFRSF27/XEDAR Biotinylated Antibody
Human EDA2R/TNFRSF27/XEDAR Biotinylated Antibody Summary
Accession # Q9HAV5
Human EDA2R/TNFRSF27/XEDAR Sandwich Immunoassay
Please Note: Optimal dilutions should be determined by each laboratory for each application. General Protocols are available in the Technical Information section on our website.
Preparation and Storage
- 12 months from date of receipt, -20 to -70 °C as supplied.
- 1 month, 2 to 8 °C under sterile conditions after reconstitution.
- 6 months, -20 to -70 °C under sterile conditions after reconstitution.
X-linked ectodysplasin receptor (XEDAR) is a type III transmembrane that lacks an N-terminal signal peptide. It is an X-linked member of the TNF Receptor Superfamily (TNFRSF). Human XEDAR is a 297 amino acid (aa) protein with a 136 aa extracellular domain, a 21 aa transmembrane domain, and a 140 aa cytoplasmic domain. Within the TNFRSF, XEDAR shares the highest homologies with EDAR and TNFRSF19/TROY. EDA-A2 is the XEDAR ligand. XEDAR expression is principally found in embryonic hair follicles. XEDAR, EDAR, EDA-A1 and EDA-A2 have been associated with hypohidrotic ectodermal dysplasia (HED). HED is characterized by abnormalities in hair, teeth, and eccrine sweat gland morphogenesis. HED was initially found to associate with two gene loci, tabby and downless. Tabby was later identified as the gene for EDA and downless as the autosomal EDAR gene. EDA has two splice variants, EDA-A1 and EDA-A2 which differ by only two amino acids. Despite this minor difference, the EDA isoforms display strong receptor specificity. EDA-A1 only binds EDAR, whereas EDA-A2 only binds to XEDAR. Mutations in EDA, EDAR and XEDAR have been associated with HED.
- Headon, D.J. and P.A Overbeek (1999) Nat. Genet. 22:370.
- Kumar, A. et al. (2000) J. Biol. Chem. 276:2668.
- Monreal, A.W. et al. (1999) Nat. Genet. 22:366.
- Schneider, P. et al. (2001) J. Biol. Chem. 276:18819.
- Srivastava, A.K. et al. (1997) Proc. Natl. Acad. Sci. USA 94:13069.
- Yan, M. et al. (2000) Science 290:523.
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