New Variants of the Cytochrome P450 2R1 ( CYP2R1 ) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency.

Variant NC_000011.10: g.14878291G>A may have a perturbing effect on heme binding in the active site of CYP2R1 and on the function of 25-hydroxylase and probably affects the concentration of 25(OH)D in vivo. We intend to perform functional verification in a larger patient population to confirm and extend these results.