Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
By Jeffrey B. Cheng, M. Levine, N. Bell, D. Mangelsdorf, David W. Russell. Proceedings of the National Academy of Sciences of the United States of America, 2004
716 citations recorded by the source corpus.
Subfields: Endocrinology, Diabetes and Metabolism, Pathology and Forensic Medicine
View Paper: https://www.semanticscholar.org/paper/886a11380222536ec4e752ab66ba83c737f133f9
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In Pathology and Forensic Medicine
Citations in the corpus
- Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects. (2016, background): “(80), is the key vitamin D 25-hydroxylase, since patients with a mutation of the CYP2R1 have 25(OH)D3 deficiency and symptoms of vitamin D-dependent rickets (12, 73, 79, 121, 275).”
- Vitamin D and human health: lessons from vitamin D receptor null mice. (2008, background): “At least four enzymes, all microsomal cytochrome P450 (CYP) isoforms (CYP2DII, CYP2D25, CYP3A4, and CYP2R1), can accomplish the 25-hydroxylation of vitamin D in human liver cells, but the low-capacity, high-affinity microsomal CYP2R1 is most likely the key enzyme because a homozygous mutation was fo”
- Vitamin D: modulator of the immune system. (2010, background): “Several cytochrome P450 (CYP) isoforms have been proposed to accomplish this hydroxylation step (including the mitochondrial CYP27A1 and the microsomal CYP2R1, CYP3A4, and CYP2J3), but CYP2R1 is suspected to be the high-affinity 25-hydroxylase [15].”
- Genome-wide association study of circulating vitamin D levels (2010, neutral): “An inherited mutation in this gene causes the substitution of a proline for an evolutionarily conserved leucine at amino acid 99 in the CYP2R1 protein and the proline to valine shift has been related to rickets (25), mediated through this defect in vitamin D C-25 hydroxylation (24).”
- Bile Formation and Secretion (2013, neutral): “The vitamin D metabolite, 25-hydroxyvitamin D, is first formed in the hepatocytes by CYP2R1 (112, 113).”