alexa Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Stem Cell Research & Therapy

Author(s): Nishikimi M, Yagi K

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Abstract The inability of humans to synthesize L-ascorbic acid is known to be due to a lack of L-gulono-gamma-lactone oxidase, an enzyme that is required for the biosynthesis of this vitamin. Isolation of a cDNA for rat L-gulono-gamma-lactone oxidase allowed us to study the basic defect underlying this deficiency at the gene level and led to isolation of a human genomic clone related to L-gulono-gamma-lactone oxidase as well as three overlapping clones covering the entire coding region of the rat L-gulono-gamma-lactone oxidase cDNA. Sequence analysis study indicated that the human L-gulono-gamma-lactone oxidase gene has accumulated a large number of mutations since it stopped being active and that it now exists as a pseudogene in the human genome.
This article was published in Am J Clin Nutr and referenced in Journal of Stem Cell Research & Therapy

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