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: Full length human EDAR gene is subcloned into the Lentiviral expression vector pLTC with an upstream CMV promoter, which can be used for both transient and stable expression in mammalian cells.  It can be co-transfected with the LentiPAK DNA mix (SKU# LP-001) into HEK293 cells to produce high titer lentiviral particles.

 

Vector Type: pLTC (lentiviral expression vector containing a heterologous CMV promoter, see the vector map above)

 

Formulation: Supplied with 10 μg of endotoxin-free plasmid DNA at 200 ng/μl in sterile TE buffer (pH8.0)

 

Gene Insert Sequence:  

ATGGCCCATGTGGGGGACTGCACGCAGACGCCCTGGCTCCCCGTCCTGGTGGTGTCTCTGATGTGCTCAGCCCGAGCGGA

ATACTCAAACTGCGGTGAGAACGAGTACTACAACCAGACTACGGGGCTGTGCCAGGAGTGCCCCCCGTGTGGGCCGGGAG

AGGAGCCCTACCTGTCCTGTGGCTACGGCACCAAAGACGAGGACTACGGCTGCGTCCCCTGCCCGGCGGAGAAGTTTTCC

AAAGGAGGCTACCAGATATGCAGGCGTCACAAAGACTGTGAGGGCTTCTTCCGGGCCACCGTGCTGACACCAGGGGACAT

GGAGAATGACGCTGAGTGTGGCCCTTGCCTCCCTGGCTACTACATGCTGGAGAACAGACCGAGGAACATCTATGGCATGG

TCTGCTACTCCTGCCTCCTGGCACCCCCCAACACCAAGGAATGTGTGGGAGCCACTTCAGGAGCTTCTGCCAACTTCCCT

GGCACCTCGGGCAGCAGCACCCTGTCTCCCTTCCAGCACGCCCACAAAGAACTCTCAGGCCAAGGACACCTGGCCACTGC

CCTGATCATTGCAATGTCCACCATCTTCATCATGGCCATCGCCATCGTCCTCATCATCATGTTCTACATCCTGAAGACAA

AGCCCTCTGCCCCAGCCTGTTGCACCAGCCACCCGGGGAAGAGCGTGGAGGCCCAAGTGAGCAAGGACGAGGAGAAGAAA

GAGGCCCCAGACAACGTGGTGATGTTCTCCGAGAAGGATGAATTTGAGAAGCTGACAGCAACTCCAGCAAAGCCCACCAA

GAGCGAGAACGATGCCTCATCCGAGAATGAGCAGCTGCTGAGCCGGAGCGTCGACAGTGATGAGGAGCCCGCCCCTGACA

AGCAGGGCTCCCCGGAGCTGTGCCTGCTGTCGCTGGTTCACCTGGCCAGGGAGAAGTCTGCCACCAGCAACAAGTCAGCC

GGGATTCAAAGCCGGAGGAAAAAGATCCTCGATGTGTATGCCAACGTGTGTGGAGTCGTGGAAGGTCTTAGCCCCACGGA

GCTGCCATTTGATTGCCTCGAGAAGACTAGCCGAATGCTCAGCTCCACGTACAACTCTGAGAAGGCTGTTGTGAAAACGT

GGCGCCACCTCGCCGAGAGCTTCGGCCTGAAGAGGGATGAGATTGGGGGCATGACAGACGGCATGCAACTCTTTGACCGC

ATCAGCACGGCAGGCTACAGCATCCCTGAGCTACTCACAAAACTGGTGCAGATTGAGCGGCTGGATGCTGTGGAGTCCTT

GTGTGCAGACATACTGGAGTGGGCGGGGGTTGTGCCACCTGCCTCCCAGCCACATGCTGCATCCTGA

 

Primers: Gene insert coding sequence can be confirmed by following primers:

(a) forward (or 5'-end) primer: 5’-CAAATGGGCGGTAGGCGTG-3’;

(b) reverse (or 3'-end) primer: 5’-CGGGAAGCAATAGCATGATA-3’

 

 

Note: The sequence may vary due to the naturally occurring variants or mutations, such as single nucleotide polymorphism, or the artifact during PCR amplification.  High fidelity PCR systems should always be used. 

 

  

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 6 months. 

 

 

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: LTP0282-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.