Bioinformatics Database
VDR: Vitamin D receptor
3D Protein Structure Viewer
Cellular Process
Dentin formation
Gene Name
VDR: Vitamin D receptor
Gene ID
7421
Gene Sequence
General Description
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.
Alternative titles; symbols
1,25-DIHYDROXYVITAMIN D3 RECEPTOR VITAMIN D HORMONE RECEPTOR
Chromosome
Chromosome 12
Cytogenetic location
12q13.11
Encoded Protein
Vitamin D3 receptor isoform VDRA
Function of the protein in oral and tooth development
"Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations at the level of the vitamin D receptor ( VDR) gene. The disease is characterized by refractory hypocalcemia, elevated serum levels of 1,25-dihydroxy-vitamin D, retarded growth, sparse body hair (sometimes alopecia), premature tooth loss, enlarged pulp chambers, thin dentine, and hypoplastic enamel" (Hanna et al., 2018).
Dental and Oral Diseases
Protein Sequence
>NP_000367.1 vitamin D3 receptor isoform VDRA [Homo sapiens]
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITK
DNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHH
KTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEE
DSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFT
MDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAA
LIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLE
VFGNEIS
Mutations
Related Literature
Hanna et al., (2018): https://doi.org/10.1177/2380084417732510
