|Other Names||Tumor necrosis factor receptor superfamily member 27, X-linked ectodysplasin-A2 receptor, EDA-A2 receptor, EDA2R, TNFRSF27, XEDAR|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.|
|Cellular Location||Membrane; Single-pass type III membrane protein|
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EDA-A1 and EDA-A2 are two isoforms of ectodysplasin thatare encoded by the anhidrotic ectodermal dysplasia (EDA) gene.Mutations in EDA give rise to a clinical syndrome characterized byloss of hair, sweat glands, and teeth. The protein encoded by thisgene specifically binds to EDA-A2 isoform. This protein is a typeIII transmembrane protein of the TNFR (tumor necrosis factorreceptor) superfamily, and contains 3 cysteine-rich repeats and asingle transmembrane domain but lacks an N-terminal signal peptide.Multiple alternatively spliced transcript variants have been foundfor this gene, but some variants lack sufficient support. [providedby RefSeq].
Brockschmidt, F.F., et al. Br. J. Dermatol. 162(4):899-903(2010)Tanikawa, C., et al. Oncogene 28(34):3081-3092(2009)Fujimoto, A., et al. J. Hum. Genet. 54(8):461-465(2009)Hillmer, A.M., et al. Hum. Genet. 126(2):255-264(2009)Richards, J.B., et al. Nat. Genet. 40(11):1282-1284(2008)
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