Anti-PMM2 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Phosphomannomutase 2 (PMM2) also known as PMM 22 or PMM II is an enzyme that plays a role in the conversion of mannose-6-phosphate to mannose-1-phosphate. PMM2 is about 29 kDa in size and exists predominantly in the cytoplasm of cells. It shows widespread expression but higher levels are found in the liver brain and muscle tissues. PMM2 activity is important in carbohydrate metabolism making it an enzyme of interest especially in the context of glycobiology and metabolic research.

Biological function summary

PMM2 catalyzes an important step in the biosynthesis of GDP-mannose which is necessary for glycan production. These glycans are essential in the process of glycosylation a post-translational modification of proteins and lipids. PMM2 acts independently and does not form part of a larger protein complex. Through its role in glycan synthesis PMM2 impacts cell signaling protein folding and molecular interactions.

Pathways

PMM2 is involved in the N-glycosylation pathway and the GDP-mannose biosynthesis pathway. It collaborates closely with proteins such as PMM1 as both contribute to mannose metabolism and glycan assembly. PMM2 is significant in these pathways as it impacts not only the formation of sugar nucleotides but also their integration into larger biomolecules.

Associated diseases and disorders

PMM2 dysfunction is directly linked to Congenital Disorders of Glycosylation Type Ia (CDG-Ia). This genetic disorder results from mutations in the PMM2 gene impairing glycosylation processes and resulting in multisystemic clinical manifestations. The protein PMM1 while not directly associated with the disorder serves complementary functions in mannose phosphate isomerization and may modulate the impact of PMM2 deficiencies.