The first and rate-limiting step in the formation of glutathione is catalyzed by γ-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 6pl2, 1.6 cM distal to D6S295.
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