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
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