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Ectodysplasin A Receptor (EDAR)

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DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; Ectodysplasin 1,Anhidrotic Receptor; Downless homolog; EDA-A1 receptor; Ectodermal dysplasia receptor

Ectodysplasin A Receptor (EDAR)
CCC F398
HGNC 2895
MGI 1343498
PubMed 22648185
RGD 1561714
UniProt Q9UNE0
Wiki EDAR
Ectodysplasin A Receptor is a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.
This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF398Hu01 Recombinant Ectodysplasin A Receptor (EDAR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Ectodysplasin A Receptor (EDAR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ectodysplasin A Receptor (EDAR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ectodysplasin A Receptor (EDAR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ectodysplasin A Receptor (EDAR) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ectodysplasin A Receptor (EDAR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ectodysplasin A Receptor (EDAR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ectodysplasin A Receptor (EDAR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ectodysplasin A Receptor (EDAR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ectodysplasin A Receptor (EDAR) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ectodysplasin A Receptor (EDAR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ectodysplasin A Receptor (EDAR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ectodysplasin A Receptor (EDAR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ectodysplasin A Receptor (EDAR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ectodysplasin A Receptor (EDAR) ELISA Kit Customized Service Offer
  1. "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia."Nat. Genet. 22:366-369(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors."Science 290:523-527(2000) [PubMed] [Europe PMC] [Abstract]
  7. "The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A."J. Biol. Chem. 276:2668-2677(2001) [PubMed] [Europe PMC] [Abstract]
  8. "A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene."J. Invest. Dermatol. 123:649-655(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia."Br. J. Dermatol. 153:46-50(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia."Hum. Mutat. 27:255-259(2006) [PubMed] [Europe PMC] [Abstract]
  11. "Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia."Eur. J. Hum. Genet. 16:673-679(2008) [PubMed] [Europe PMC] [Abstract]
  12. "A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness."Hum. Mol. Genet. 17:835-843(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form."Hum. Mutat. 29:1405-1411(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia."Clin. Genet. 75:582-584(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases." Hum. Mutat. 32:70-72(2011) [PubMed] [Europe PMC] [Abstract]