α-D-Glucose 1,6-bisphosphate is used in the identification, differentiation and characterization of α-phosphoglucomutase(s), β-phosphoglucomutase(s) and α- and β-hexoglucomutase(s).
Biochem/physiol Actions
Metabolite formed via the activity of Glucose-1,6-biphosphate synthase. Glucose-1,6-biphosphate (G-1,6-BP) acts as an inhibitor of hexokinase function and an activator of phosphofructokinase-1 and pyruvate kinase. G-1,6-BP also acts as a coenzyme for phosphoglucomutate and a cofactor for phosphopentomutase.
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Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally. PMM2 orthologs are present in model organisms, including the budding yeast Saccharomyces cerevisiae gene SEC53 Here we describe conserved genotype-phenotype
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