EDAR (ectodysplasin A receptor), also known as Anhidrotic ectodysplasin receptor 1, Ectodysplasin-A receptor, Ectodermal dysplasia receptor, Downless homolog, and DL, is a single-pass, type I transmembrane glycoprotein in the TNF receptor superfamily (TNFRSF).  The extracellular domain (ECD) of EDAR contains three TNFR cysteine­rich repeats and the cytoplasmic domain contains a region with homology to the death domain (DD) found in other TNFRSF members. EDAR is detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes but not detected in lymphoblast and fibroblast cells. Within the TNFRSF, EDAR shares the highest homologies with XEDAR/EDA2R (TNFRSF27) and TROY (TNFRSF19). EDAR is a receptor for the soluble ligand ectodysplasin A isoform A1 (EDA-A1) but not for isoform A2 (EDA-A2), which binds to EDA2R/XEDAR, an X­linked TNFRSF member with high homology to EDAR. Other than a 2 amino acid deletion in its TNF­like domain, EDA­A2 is identical to EDA­A1. EDAR can activate the NF-kB, JNK, and caspase-independent cell death pathways. EDAR 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 (HED), which is characterized by abnormalities in hair, teeth and eccrine sweat gland morphogenesis. Defects in EDAR are also the cause of ectodermal dysplasia type 3 (ED3) which is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

EDAR (ectodysplasin A receptor), also known as Anhidrotic ectodysplasin receptor 1, Ectodysplasin-A receptor, Ectodermal dysplasia receptor, Downless homolog, and DL, is a single-pass, type I transmembrane glycoprotein in the TNF receptor superfamily (TNFRSF).  The extracellular domain (ECD) of EDAR contains three TNFR cysteine­rich repeats and the cytoplasmic domain contains a region with homology to the death domain (DD) found in other TNFRSF members. EDAR is detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes but not detected in lymphoblast and fibroblast cells. Within the TNFRSF, EDAR shares the highest homologies with XEDAR/EDA2R (TNFRSF27) and TROY (TNFRSF19). EDAR is a receptor for the soluble ligand ectodysplasin A isoform A1 (EDA-A1) but not for isoform A2 (EDA-A2), which binds to EDA2R/XEDAR, an X­linked TNFRSF member with high homology to EDAR. Other than a 2 amino acid deletion in its TNF­like domain, EDA­A2 is identical to EDA­A1. EDAR can activate the NF-kB, JNK, and caspase-independent cell death pathways. EDAR 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 (HED), which is characterized by abnormalities in hair, teeth and eccrine sweat gland morphogenesis. Defects in EDAR are also the cause of ectodermal dysplasia type 3 (ED3) which is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

  

Product Details

 

Gene Symbol: DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R

  

NCBI Gene ID: 10913

 

Uniprot Entry: Q9UNE0

 

Construct Details: The recombinant human EDAR-Fc fusion is expressed as a 389 amino acid protein consisting of Glu27 - Ala187 region of EDAR (UniProt accession #Q9UNE0) and a C-terminal Fc from human IgG1, which exists as a dimer under non-reducing conditions (see the gel image inserted above).  

   

Source: Human cells stably expressing human EDAR-Fc and growing in chemical-defined media with no animal components or antibiotics

 

Deduced Amino Acid Sequence: 

        10         20         30         40         50         60 

EYSNCGENEY YNQTTGLCQE CPPCGPGEEP YLSCGYGTKD EDYGCVPCPA EKFSKGGYQI 

        70         80         90        100        110        120 

CRRHKDCEGF FRATVLTPGD MENDAECGPC LPGYYMLENR PRNIYGMVCY SCLLAPPNTK 

       130        140        150        160        170        180 

ECVGATSGAS ANFPGTSGSS TLSPFQHAHK ELSGQGHLAT ASTGTHTCPP CPAPELLGGP 

       190        200        210        220        230        240 

SVFLFPPKPK DTLMISRTPE VTCVVVDVSH EDPEVKFNWY VDGVEVHNAK TKPREEQYNS 

       250        260        270        280        290        300 

TYRVVSVLTV LHQDWLNGKE YKCKVSNKAL PAPIEKTISK AKGQPREPQV YTLPPSREEM 

       310        320        330        340        350        360 

TKNQVSLTCL VKGFYPSDIA VEWESNGQPE NNYKTTPPVL DSDGSFFLYS KLTVDKSRWQ 

       370        380 

QGNVFSCSVM HEALHNHYTQ KSLSLSPGK 

 

M.W.: Calculated molecular mass (kDa): 42.9; Estimated by SDS-PAGE under reducing condition (kDa): 60-65

 

Calculated PI: 5.81

 

Calculated extinction coefficients (M-1 cm-1, at 280nm): 53050

 

Purity: >95% judged by SDS-PAGE under reducing condition (see the gel image above, labeled as "DTT: +")

 

Formulation: Supplied at 0.5 mg/ml in sterile PBS pH7.4 (carrier & preservative free).

 

Endotoxin Level: <0.1 EU per 1 μg of purified recombinant protein determined by the LAL method

 

Biological Activity: Binds to its ligand EDA­A1 and blocks EDA-A1-mediated signaling activity.

 

 

  

FOR RESEARCH USE ONLY. NOT FOR DIAGNOSTIC OR THERAPEUTIC USE IN HUMAN.

Restriction: This product is not transferable or re-sellable.  Customer obtain no right to transfer, assign, or sublicense its use rights, or to transfer, resell, package, or otherwise distribute the product, or to use the product for the benefit of any third party or for any commercial purpose.  Customer may only use the product in compliance with applicable local, state and federal laws, regulations and rules.  Customer may not directly or indirectly use the product or allow the transfer, transmission, export or re-export of all or any part of the product in violation of any export control law or regulation of the united states or any other relevant jurisdiction.  Your use of this product constitutes acceptance of the terms of this limited use agreement.  Please refer to our “terms & conditions” for details.  If you are not willing to accept the limitation of this agreement, G&P Biosciences will accept return of the product for a full/partial refund.

 

Storage

 

The product is shipped at 4°C. Upon receipt, centrifuge the product briefly before opening the vial. It is recommended to store small aliquots at the temperature below –20°C for long-term storage and the product is stable for 3 months. The undiluted protein can be stored at 4°C for no more than 2 weeks.

 

 

Use a manual defrost freezer and avoid repeated freeze-thaw cycles.

 

 

 

FOR RESEARCH USE ONLY. NOT FOR DIAGNOSTIC OR THERAPEUTIC USE IN HUMAN.

 

References

 

 

1. Nat. Genet. 22:366 (1999).

2. Nat. Genet. 22:370 (1999).

3. Proc. Natl. Acad. Sci. 94:13069 (1997).

4. Science 290:523 (2000).

5. J. Biol. Chem. 276:18819 (2001).

6. Hum. Mol. Genet. 17: 835 (2008).

 

 

 

Documentation

 

Product datasheet (pdf) can be downloaded here: FCL0282-PDS.pdf

 

 

 

Additional supporting documents, including COA and MSDS are available upon request.

 

 

 

FOR RESEARCH USE ONLY. NOT FOR DIAGNOSTIC OR THERAPEUTIC USE IN HUMAN.

Restriction: This product is not transferable or re-sellable.  Customer obtain no right to transfer, assign, or sublicense its use rights, or to transfer, resell, package, or otherwise distribute the product, or to use the product for the benefit of any third party or for any commercial purpose.  Customer may only use the product in compliance with applicable local, state and federal laws, regulations and rules.  Customer may not directly or indirectly use the product or allow the transfer, transmission, export or re-export of all or any part of the product in violation of any export control law or regulation of the united states or any other relevant jurisdiction.  Your use of this product constitutes acceptance of the terms of this limited use agreement.  Please refer to our “terms & conditions” for details.  If you are not willing to accept the limitation of this agreement, G&P Biosciences will accept return of the product for a full/partial refund.