Gene: CYP24A1

Alternate names for this Gene: CP24|CYP24|HCAI|HCINF1|P450-CC24

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.2

Description of this Gene: cytochrome P450 family 24 subfamily A member 1

Type of Gene: protein-coding

rs114368325 in CYP24A1 gene and Calcium Metabolism Disorders PMID 21675912 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

PMID 22047571 2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.

rs1570669 in CYP24A1 gene and Calcium level result PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

rs1570669 in CYP24A1 gene and Calcium measurement PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

rs2762943 in CYP24A1 gene and Creatinine measurement, serum (procedure) PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs114368325 in CYP24A1 gene and Hypercalcemia, Infantile, 1 PMID 25194629 2015 Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake.

PMID 26117226 2015 Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

PMID 26097993 2015 Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.

PMID 23001465 2013 Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.

PMID 23485543 2013 Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

PMID 25446019 2015 Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

PMID 21675912 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

PMID 24518185 2014 "A Case of ""Late-Onset"" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene."

PMID 26214117 2015 CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

PMID 27394135 2016 Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

PMID 23293122 2013 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

PMID 28109821 2017 Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

PMID 23470222 2013 Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.

PMID 24875559 2014 CYP24A1 mutation leading to nephrocalcinosis.

PMID 26787776 2016 Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

PMID 22112808 2012 Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

PMID 24423361 2014 A lifetime of hypercalcemia and hypercalciuria, finally explained.

PMID 26304832 2015 Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.

PMID 22047572 2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.

rs2248359 in CYP24A1 gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs114368325 in CYP24A1 gene and Nephrocalcinosis PMID 21675912 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

PMID 22047571 2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.