Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.

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Article

Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.

The Journal of biological chemistry - 5 Oct 1990

Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer U A

Abstract excerpt

The debrisoquine/sparteine-type polymorphism is a clinically important inherited variation of drug metabolism characterized by two phenotypes, the extensive metabolizer and the poor metabolizer (PM). Five to 10 percent of individuals in Caucasian populations are of the PM phenotype and have deficient metabolism of debrisoquine and over 25 other drugs. Our previous studies have revealed absence of cytochrome...

Topics

Alleles
Base Sequence
Chimera
Cloning, Molecular
Cytochrome P-450 Enzyme System
DNA
Debrisoquin
Exons
Gene Expression
Genes
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Phenotype

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 2211621

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2211621-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.PMID 2211621Read ↗

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The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype.Semantic proximity Read ↗

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Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry.Semantic proximity Read ↗

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