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Article

CYP2R1 mutations causing vitamin D-deficiency rickets.

The Journal of steroid biochemistry and molecular biology - 1 Oct 2017

Thacher Tom D, Levine Michael A

Abstract excerpt

CYP2R1 is the principal hepatic 25-hydroxylase responsible for the hydroxylation of parent vitamin D to 25-hydroxyvitamin D [25(OH)D]. Serum concentrations of 25(OH)D reflect vitamin D status, because 25(OH)D is the major circulating metabolite of vitamin D. The 1α-hydroxylation of 25(OH)D in the kidney by CYP27B1 generates the fully active vitamin D metabolite, 1,25-dihydroxyvitamin D (1,25(OH)2D). The human...

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Identifiers

PMID: 27473561
DOI: 10.1016/j.jsbmb.2016.07.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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