Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jul 2015

Thacher Tom D, Fischer Philip R, Singh Ravinder J, Roizen Jeffrey, Levine Michael A

Abstract excerpt

CONTEXT: Production of the active vitamin D hormone 1,25-dihydroxyvitamin D requires hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D 25-hydroxylase in humans. OBJECTIVE: This study aimed to determine the prevalence of CYP2R1 mutations in Nigerian children with familial rickets and vitamin D deficiency and assess the functional effect on 25-hydroxylase activity. DESIGN AND...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholestanetriol 26-Monooxygenase
Share to Cytochrome P450 Family 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Mutation, Missense

Share to Nigeria

Share to Rickets

Share to Vitamin D

Share to Vitamin D Deficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 25942481
DOI: 10.1210/jc.2015-1746
PMCID: PMC4490307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.PMID 25942481Read ↗

CYP2R1 mutations causing vitamin D-deficiency rickets.Semantic proximity Read ↗

Mutation of the<i>CYP2R1</i>Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D DeficiencySemantic proximity Read ↗

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Semantic proximity Read ↗

The CYP2R1 Enzyme: Structure, Function, Enzymatic Properties and Genetic PolymorphismSemantic proximity Read ↗

Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.Semantic proximity Read ↗

Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.Semantic proximity Read ↗

Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.Semantic proximity Read ↗

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.Semantic proximity Read ↗

CYP2R1 and CYP27A1 genes: An in silico approach to identify the deleterious mutations, impact on structure and their differential expression in disease conditions.Semantic proximity Read ↗

Genetic Diseases of Vitamin D Metabolizing Enzymes.Semantic proximity Read ↗

A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.Semantic proximity Read ↗

Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.