Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes.

doi:10.1038/sj.mp.4001386

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Article

Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes.

Molecular psychiatry - 1 Feb 2004

Shield A J, Thomae B A, Eckloff B W, Wieben E D, Weinshilboum R M

Abstract excerpt

Catechol O-methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catecholestrogens and catechol drugs. A common COMT G472A genetic polymorphism (Val108/158Met) that was identified previously is associated with decreased levels of enzyme activity and has been implicated as a possible risk factor for neuropsychiatric disease. We set out to 'resequence' the human COMT gene using DNA...

Topics

Animals
COS Cells
Catechol O-Methyltransferase
Genetic Linkage
Genetic Variation
Haplotypes
Humans
Kidney
Liver
Methylation
Phenotype
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Recombinant Proteins
Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 14966473
DOI: 10.1038/sj.mp.4001386

Genes

COMT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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