LongevityMap Gene

Gene details

HGNC symbol
CYP2R1 
Aliases
 
Common name
cytochrome P450 family 2 subfamily R member 1 
Description
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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
Cytogenetic Location
11p15.2
UCSC Genome Browser
View 11p15.2 on the UCSC genome browser
OMIM
608713
Ensembl
ENSG00000186104
UniProt/Swiss-Prot
CP2R1_HUMAN
Entrez Gene
120227
UniGene
371427
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
cyp-33b1
Danio rerio
cyp2r1
Mus musculus
Cyp2r1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
Single nucleotide polymorphisms (SNPs) associated with vitamin D levels were studied in the offspring (n = 1038) of nonagenarians who had at least one nonagenarian sibling. The offsprings' partners (n = 461) were used as controls.
Conclusions
No SNP was found to be associated with longevity after correcting for multiple testing, though the offspring had a slightly lower frequency of a genetic variant (rs2060793) in CYP2R1
Indentifier
rs2060793
Reference