Identification of a novel haplotype of the human catechol-O-methyltransferase gene.

ABSTRACT: Human catechol-O-methyltransferase (COMT; EC 2.1.1.6) catalyzes the transfer of the methyl group to a variety of endogenous and exogenous catechol substrates using S-adenosyl-L-methionine as the methyl donor. This enzymatic O-methylation plays an important role in the inactivation of biologically active and toxic catechols. A number of studies in recent years have sought to characterize the polymorphism of human COMTs and also to determine the catalytic activity of polymorphic enzymes. We report here the identification of a new haplotype of the human COMT gene with triplet point mutations, which encodes the D51G/S60F/K162R mutant of the soluble COMT and the D101G/S110F/K212R mutant of the membrane-bound COMT. Kinetic analysis showed that these new COMT variants had essentially the same kin

SUBMITTER: Bai HW 

PROVIDER: S-EPMC4417470 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature