Article
The structural and molecular biology of type IV galactosemia.
Biochimie - 1 Apr 2021
Banford Samantha, Timson David J
Abstract excerpt
Type IV galactosemia is a recently discovered inherited metabolic disease. It is caused by mutations in the GALM gene which result in reduced activity of the enzyme galactose mutarotase. This enzyme catalyses the interconversion of the α- and β-anomers of d-galactose and some other monosaccharides. Human galactose mutarotase is monomeric and its structure is largely composed of β-sheets. The catalytic mechanism...
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