CYP2R1

  • OMIM: 608 713
  • UniProt: Q6VVX0
  • MGI: 2449771

Cytochrome P450 2R1 ( CYP2R1 ) (also: vitamin D - 25 -hydroxylase ), the enzyme that hydroxylates vitamin D calcidiol. This reaction is the first of two in the biosynthesis of the hormone calcitriol; it takes place exclusively in the microsomes of the liver in all vertebrates, including humans. Mutations in the gene can CYP2R1 to enzyme deficiency, and this lead to a rare inherited form of rickets.

Previously presumed to, vitamin D would be hydroxylated by an enzyme in the mitochondria. This has since been disproved.

In a study of 200 diabetes patients CYP2R1 1 variants were associated with low vitamin D levels.

Catalyzed reaction

NADPH / H O2 ⇒ ⇒ NADP H2O

Vitamin D3 is hydroxylated to calcidiol. As a substrate, vitamin D2 is accepted.

Human Genome Organisation Mouse Genome Informatics Hydroxylation Archives of Biochemistry and Biophysics Digital Object Identifier
210898
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