CYP2R1 gene

cytochrome P450 family 2 subfamily R member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

From UniProt:

Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).

From NCBI Gene:

  • Vitamin d hydroxylation-deficient rickets, type 1b

From UniProt:

Rickets vitamin D-dependent 1B (VDDR1B): A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D. [MIM:600081]

Cytogenetic Location: 11p15.2, which is the short (p) arm of chromosome 11 at position 15.2

Molecular Location: base pairs 14,877,436 to 14,898,913 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.2, which is the short (p) arm of chromosome 11 at position 15.2