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| Product Data | |
| Description | Recombinant protein of human vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 1 |
| Species | Human |
| Expression Host | HEK293T |
| Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC209262. Click on the TrueORF clone link to view cDNA and protein sequences. |
| Tag | C-Myc/DDK |
| Predicted MW | 48.1 kDa |
| Concentration | >50 ug/mL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
| Reference Data | |
| Locus ID | 7421 |
| Refseq Size | 4669 |
| Cytogenetics | 12q13.11 |
| Refseq ORF | 1281 |
| Synonyms | NR1I1; PPP1R163 |
| Summary | This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018] |
| Protein Families | Druggable Genome, Nuclear Hormone Receptor, Transcription Factors |
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