EC=1.14.13.159
Alternative name(s): Cytochrome P450 2R1
Function
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D2 and D3. Ref.1 Ref.2 Ref.5
Catalytic activity
Calciol + O2 + NADPH = calcidiol + NADP+ H2O. Ref.1 Ref.2 Ref.5
Cofactor
Heme group By similarity.
Subunit structure
Homodimer. Ref.5
Subcellular location
Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Involvement in disease
Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities
Belongs to the cytochrome P450 family.
