Wednesday, 16 April 2025

PMM2

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.

Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I.

This enzyme has been found in the venom of social wasp species Polistes major major.

References

External links

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

GeneReviews/NIH/NCBI/UW entry on PMM2-CDG (CDG-Ia)Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome

OMIM entries on Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome

This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/PMM2

PMM1

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins.

This enzyme has been extracted from the venom of the wasp species Polistes major major.