Genetic mapping of GLCLC, the human gene encoding the catalytic subunit of gamma-glutamyl-cysteine synthetase, to chromosome band 6p12 and characterization of a polymorphic trinucleotide repeat within its 5' untranslated region.
The first and rate-limiting step in the formation of glutathione is catalyzed by gamma-glutamylcysteine synthetase (glutamate-cysteine ligase, E.C. 6.3.2.2). Herein, we describe a trinucleotide repeat polymorphism located in the 5' untranslated region of the human gene, GLCLC, that encodes the catalytic subunit of this enzyme, and we genetically map GLCLC to band 6p12, 1.6 cM distal to D6S295.
Walsh
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Laboratory of Environmental and Clinical Immunology, Wadsworth Center, New York State Department of Health, Albany 12201-0509, USA. walsh@wadsworth.ph.albany.edu
Li
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Rosen
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Lawrence
D A
DA
D000483:Alleles; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D008040:Genetic Linkage; D005721:Glutamate-Cysteine Ligase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D014176:Protein Biosynthesis; D018911:Trinucleotide Repeats
D005721:Glutamate-Cysteine Ligase