Anti-PMM2 / Phosphomannomutase 2

Adding 0.2 ml of distilled water will yield a concentration of 500 ug/ml. PMM2 antibody detects Phosphomannomutase 2, encoded by the PMM2 gene on chromosome 16p13.2. PMM2 antibody is widely used in research on glycosylation disorders, metabolism, and enzymology. PMM2 is a cytoplasmic enzyme that catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate. This reaction is a key step in the synthesis of GDP-mannose, which is essential for N-linked glycosylation, glycosylphosphatidylinositol anchor formation, and protein glycan modification.Structurally, PMM2 is a ~28 kDa enzyme belonging to the phosphohexomutase family. It forms dimers and requires magnesium ions for catalytic activity. The enzyme adopts an alpha/beta fold typical of sugar phosphate mutases and contains an active-site serine residue that is phosphorylated during catalysis. PMM2 is highly conserved among species, underscoring its fundamental role in cell biology.Functionally, PMM2 is critical for proper glycoprotein biosynthesis. Its deficiency results in impaired glycosylation, disrupting protein folding, trafficking, and function. This enzyme is ubiquitously expressed, with highest activity in tissues requiring extensive glycosylation, such as liver and brain. Researchers use PMM2 antibody to study glycosylation pathways, metabolic regulation, and congenital disorders of glycosylation (CDG).Clinically, mutations in PMM2 cause congenital disorder of glycosylation type Ia (CDG-Ia), also known as Jaeken syndrome. This is the most common CDG and is characterized by developmental delay, hypotonia, coagulopathy, and multi-organ dysfunction. More than 100 pathogenic variants of PMM2 have been described, with variable severity. Therapeutic approaches under investigation include dietary supplementation and enzyme replacement strategies. NSJ Bioreagents provides PMM2 antibody for research in glycosylation disorders, enzymology, and disease models.Experimentally, PMM2 antibody is applied in western blotting to detect the ~28 kDa protein, in immunohistochemistry to study tissue distribution, and in immunofluorescence to assess subcellular localization. Enzymatic assays combined with PMM2 antibody provide functional insights into sugar phosphate metabolism.