PGAM2 Human, Active

The PGAM2 gene is located on chromosome 7 in humans and encodes the muscle-specific isoform of phosphoglycerate mutase . The enzyme is a dimeric protein, meaning it consists of two subunits. Different tissues express varying proportions of the muscle (MM) isozyme, brain (BB) isozyme, and a hybrid form (MB) .

Phosphoglycerate mutase 2 is involved in the glycolytic pathway, a critical metabolic pathway that converts glucose into pyruvate, generating energy in the form of ATP. The enzyme facilitates the interconversion of 3-phosphoglycerate and 2-phosphoglycerate with the help of 2,3-bisphosphoglycerate as a primer . This reaction is essential for the proper functioning of glycolysis and energy production in muscle cells .

Recombinant human PGAM2 is a form of the enzyme that is produced using recombinant DNA technology. This involves inserting the human PGAM2 gene into a host organism, such as Escherichia coli, to produce the enzyme in large quantities . The recombinant enzyme is biologically active and retains the same functional properties as the naturally occurring enzyme .

Recombinant human PGAM2 is widely used in biochemical research and industrial applications. It is utilized in studies related to glycolysis, metabolic disorders, and enzyme kinetics. The enzyme’s activity can be measured using various assays, and it is often used in high-throughput screening for drug discovery .

Mutations in the PGAM2 gene can lead to muscle phosphoglycerate mutase deficiency, also known as glycogen storage disease type X. This rare genetic disorder affects the muscle’s ability to produce energy, leading to symptoms such as muscle weakness and cramps .