Cytochrome P450 2D6 (CYP2D6)

CYP2D; P450C2D; CPD6; CYP2DL1; P450-DB1; Cytochrome P450 Family 2 Subfamily D Polypeptide 6; Cytochrome P450-DB1; Debrisoquine 4-hydroxylase

SPN	T479
HGNC	2625
MGI	1929474
PubMed	9241659
RGD	620640
UniProt	P10635
Wiki	CYP2D6

Cytochrome P450 2D6 (CYP2D6), a member of the cytochrome P450 mixed-function oxidase system, is one of the most important enzymes involved in the metabolism of xenobiotics in the body. Whilst CYP2D6 is involved in the oxidation of a wide range of substrates of all the CYPs, there is considerable variability in its expression in the liver. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. CYP2D6 activity was tested in "healthy infants receiving an oral dose (0.3 mg/kg) of dextromethorphan (DM) at 0.5, 1, 2, 4, 6, and 12 months of age. DM and its major metabolites were measured in urine. CYP2D6 genotype was determined by polymerase chain reaction-restriction fragment length polymorphism.

Reference

"Human debrisoquine 4-hydroxylase (P450IID1): cDNA and deduced amino acid sequence and assignment of the CYP2D locus to chromosome 22."
Genomics 2:174-179(1988) [PubMed] [Europe PMC] [Abstract]

"Characterization of the common genetic defect in humans deficient in debrisoquine metabolism."
Nature 331:442-446(1988) [PubMed] [Europe PMC] [Abstract]

"The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene."
Am. J. Hum. Genet. 45:889-904(1989) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans."
Pharmacogenomics J. 5:173-182(2005) [PubMed] [Europe PMC] [Abstract]

Erratum
Pharmacogenomics J. 5:276-276(2005)

"The DNA sequence of human chromosome 22."
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human cytochrome P450 2D6."
J. Biol. Chem. 281:7614-7622(2006) [PubMed] [Europe PMC] [Abstract]

"Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype."
Pharmacogenetics 1:26-32(1991) [PubMed] [Europe PMC] [Abstract]

"Evidence for a new variant CYP2D6 allele CYP2D6J in a Japanese population associated with lower in vivo rates of sparteine metabolism."
Pharmacogenetics 3:256-263(1993) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine."
Naunyn Schmiedebergs Arch. Pharmacol. 350:434-439(1994) [PubMed] [Europe PMC] [Abstract]

"An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution."
Hum. Genet. 95:337-341(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity."
Br. J. Clin. Pharmacol. 42:713-719(1996) [PubMed] [Europe PMC] [Abstract]

"An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine."
Hum. Genet. 97:668-670(1996) [PubMed] [Europe PMC] [Abstract]

"Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution."
Pharmacogenetics 7:193-202(1997) [PubMed] [Europe PMC] [Abstract]

"G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese."
Drug Metab. Dispos. 27:385-388(1999) [PubMed] [Europe PMC] [Abstract]

"Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population."
Pharmacogenomics 5:895-931(2004) [PubMed] [Europe PMC] [Abstract]

"In vitro functional assessment of 22 newly identified CYP2D6 allelic variants in the Chinese population."
Basic Clin. Pharmacol. Toxicol. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]