LongevityMap Gene
Gene details
- HGNC symbol
- CYP1B1
- Aliases
- CP1B; ASGD6; GLC3A; CYPIB1; P4501B1
- Common name
- cytochrome P450 family 1 subfamily B 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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 2p22.2
- UCSC Genome Browser
- View 2p22.2 on the UCSC genome browser
- OMIM
- 601771
- Ensembl
- ENSG00000138061
- UniProt/Swiss-Prot
- CP1B1_HUMAN
- Entrez Gene
- 1545
- UniGene
- 154654
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Significant
- Population
- German
- Study Design
- V432L SNP was examined in 205 octogenarians and a reference group of 294 persons aged less than 80 years
- Conclusions
- In octogenarians, the 432L allele was significantly less prevalent than in the reference group
- Indentifier
- V432L
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
- Conclusions
- No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
- Indentifier
- rs1056836
- Reference