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Title: Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
Authors: Pirard, M ×
Matthijs, Gert
Heykants, Leen
Schollen, E
Grünewald, S
Jaeken, Jacques
van Schaftingen, E #
Issue Date: Jul-1999
Series Title: FEBS Letters vol:452 issue:3 pages:319-22
Abstract: Seven mutant forms of human phosphomannomutase 2 were produced in Escherichia coli and purified. These mutants had a Vmax of 0.2-50% of the wild enzyme and were unstable. The least active protein (R141H) bears a very frequent mutation, which has never been found in the homozygous state whereas the second least active protein (D188G) corresponds to a mutation associated with a particularly severe phenotype. We conclude that total lack of phosphomannomutase 2 is incompatible with life. Another conclusion is that the elevated residual phosphomannomutase activity found in fibroblasts of some patients is contributed by their mutated phosphomannomutase 2.
URI: 
ISSN: 0014-5793
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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