PMM1 Human
Description
Product Specs
For short-term storage (up to 2-4 weeks), the entire vial can be stored at 4°C. For extended storage, it is recommended to freeze the solution at -20°C. To ensure long-term stability, consider adding a carrier protein (0.1% HSA or BSA). Repeated freezing and thawing should be avoided.
Product Science Overview
PMM1 catalyzes the reversible conversion of mannose-6-phosphate (Man-6-P) to mannose-1-phosphate (Man-1-P). This reaction is vital for the synthesis of GDP-mannose, which is necessary for several critical cellular processes . GDP-mannose is essential for:
- N-glycosylation of proteins: This process is crucial for proper protein folding and stability.
- Synthesis of microbial cell wall polysaccharides: These polysaccharides are important for the structural integrity of microbial cells.
- Biosynthesis of L-ascorbic acid (vitamin C) in plants: This vitamin is a key antioxidant that protects cells from oxidative damage .
In humans, there are two isozymes of phosphomannomutase: PMM1 and PMM2. These isozymes are encoded by separate genes and have distinct but overlapping functions. PMM1 is primarily involved in mannose metabolism, while PMM2 has additional roles in glycosylation processes .
The evolutionary significance of PMM1 is highlighted by its conservation across different species. In many organisms, a single gene encodes both PMM and phosphoglucomutase (PGM) activities. This bifunctional enzyme is an example of evolutionary convergence, where similar functions have evolved independently in different lineages .
PMM1 is of particular interest in medical research due to its role in metabolic pathways. Mutations in the PMM2 gene are known to cause congenital disorders of glycosylation (CDG), a group of inherited metabolic disorders that affect glycosylation. While PMM1 mutations are less commonly associated with disease, understanding its function can provide insights into related metabolic disorders .
Recombinant human PMM1 is produced using genetic engineering techniques. This involves inserting the human PMM1 gene into a suitable expression system, such as bacteria or yeast, to produce the enzyme in large quantities. Recombinant PMM1 is used in research to study its structure, function, and potential therapeutic applications .
