Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
Cleveland Clinic · Howard Hughes Medical Institute · +3 more institutions
Abstract
The synthesis of bioactive vitamin D requires hydroxylation at the 1 alpha and 25 positions by cytochrome P450 enzymes in the kidney and liver, respectively. The mitochondrial enzyme CYP27B1 catalyzes 1 alpha-hydroxylation in the kidney but the identity of the hepatic 25-hydroxylase has remained unclear for >30 years. We previously identified the microsomal CYP2R1 protein as a potential candidate for the liver vitamin D 25-hydroxylase based on the enzyme's biochemical properties, conservation, and expression pattern. Here, we report a molecular analysis of a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual was found to be homozygous for a…
Citation impact
- FWCI
- 11.96
- Percentile
- 100%
- References
- 48
Authors
5- JBJeffrey B. ChengCorresponding
Cleveland Clinic, Howard Hughes Medical Institute, Medical University of South Carolina, Southwestern Medical Center, The University of Texas Southwestern Medical Center
- MAMichael A. Levine
Cleveland Clinic, Howard Hughes Medical Institute, Medical University of South Carolina, Southwestern Medical Center, The University of Texas Southwestern Medical Center
- NHNorman H. Bell
Cleveland Clinic, Howard Hughes Medical Institute, Medical University of South Carolina, Southwestern Medical Center, The University of Texas Southwestern Medical Center
- DJDavid J. Mangelsdorf
Cleveland Clinic, Howard Hughes Medical Institute, Medical University of South Carolina, Southwestern Medical Center, The University of Texas Southwestern Medical Center
- DWDavid W. Russell
Cleveland Clinic, Howard Hughes Medical Institute, Medical University of South Carolina, Southwestern Medical Center, The University of Texas Southwestern Medical Center
Topics & keywords
- Biology
- Vitamin D and neurology
- Vitamin
- Biochemistry
- vitamin D deficiency
- Enzyme
- Hydroxylation
- Cytochrome P450
- Life in Land