Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
, 54 (6 Suppl), 1203S-1208S

Molecular Basis for the Deficiency in Humans of Gulonolactone Oxidase, a Key Enzyme for Ascorbic Acid Biosynthesis

Affiliations
Review

Molecular Basis for the Deficiency in Humans of Gulonolactone Oxidase, a Key Enzyme for Ascorbic Acid Biosynthesis

M Nishikimi et al. Am J Clin Nutr.

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.

Similar articles

See all similar articles

Cited by 27 articles

See all "Cited by" articles

Publication types

LinkOut - more resources

Feedback