LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
French
Study Design
CYP2D63 (A2637 deletion) and CYP2D64 (G1934A transition) alleles were examined in 552 centenarians and 243 controls aged 20-70 years
Conclusions
No significant difference was found between centenarian and control subjects

Variants (2)

1.
Identifier
A2637
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser
2.
Identifier
G1934A
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

Muiras et al. (1998)

Other variants which are also part of this study