LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Spanish
Study Design
The enzymatic polymorphism was examined in 41 nonagenarians (10 males, mean age 92.2 years, range 90-98) free of known malignancies or neurodegenerative diseases and in control groups comprised of 217 healthy volunteers (128 males, mean age 36.3 years)
Conclusions
No association with longevity was found
Identifier
CYP2D6
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser

Gene details

HGNC symbol
CYP2D6
Aliases
CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1 
Common name
cytochrome P450 family 2 subfamily D member 6 
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 protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Other longevity studies of this gene
7
OMIM
124030
Ensembl
ENSG00000100197
UniProt/Swiss-Prot
C1ID52_HUMAN
Entrez Gene
1565
UniGene
648256
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
Cyp18a1
Mus musculus
Cyp2d22
Rattus norvegicus
Cyp2d18

References

AgĂșndez et al. (1997)

Other variants which are also part of this study