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

Genetic disorders of Vitamin D biosynthesis and degradation.

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

Miller Walter L

Abstract excerpt

Vitamin D, an inactive secosteroid pro-hormone, is produced by the action of ultraviolet light on 7-dehydrocholesterol in the skin. The active hormone, 1,25(OH)2D is produced by sequential 25-hydroxylation in the liver, principally by CYP2R1, and 1α-hydroxylation in the kidney by CYP27B1. Mutations in CYP27B1 cause 1α-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary...

Read the complete abstract on PubMed

Topics

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

Share to Calcitriol
Share to 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Share to Cholestanetriol 26-Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol Side-Chain Cleavage Enzyme

Share to Cytochrome P450 Family 2

Share to Hypercalcemia

Share to Rickets

Share to Vitamin D3 24-Hydroxylase

Source

Identifiers

PMID: 27060335
DOI: 10.1016/j.jsbmb.2016.04.001

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

Genetic disorders of Vitamin D biosynthesis and degradation.PMID 27060335Read ↗

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

Genetic disorders of vitamin D biosynthesis.Semantic proximity Read ↗

CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.Semantic proximity Read ↗

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

Cytochrome P450-mediated metabolism of vitamin D.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 ↗

Genetic causes of rickets.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 mutations causing vitamin D-deficiency rickets.Semantic proximity Read ↗

Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.Semantic proximity Read ↗

Identification and analysis of 35 genes associated with vitamin D deficiency: A systematic review to identify genetic variants.Semantic proximity Read ↗

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.Semantic proximity Read ↗

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