PGAM2 Human

PGAM2 is encoded by the PGAM2 gene located on chromosome 7 in humans . The enzyme exists primarily as a dimer composed of two identical or closely related subunits, each with a molecular weight of approximately 32 kDa . The structure of PGAM2 is highly conserved across different species, from yeast to humans .

There are two main isoforms of phosphoglycerate mutase in mammals: the brain-specific isoform (PGAM1) and the muscle-specific isoform (PGAM2) . PGAM2 is predominantly expressed in muscle tissues, where it plays a vital role in muscle metabolism .

PGAM2 functions as an isomerase, facilitating the internal transfer of a phosphate group from the C-3 carbon of 3-phosphoglycerate to the C-2 carbon, forming 2-phosphoglycerate . This reaction involves a 2,3-bisphosphoglycerate intermediate . The enzyme can also catalyze other reactions, including a phosphatase reaction that creates phosphoglycerate from 2,3-bisphosphoglycerate and a synthase reaction that produces 2,3-bisphosphoglycerate from 1,3-bisphosphoglycerate .

Mutations in the PGAM2 gene can lead to muscle phosphoglycerate mutase deficiency, also known as glycogen storage disease type X . This condition is characterized by muscle weakness and exercise intolerance due to impaired glycolysis in muscle cells .

Human recombinant PGAM2 is produced using recombinant DNA technology, which involves inserting the PGAM2 gene into an expression vector and introducing it into a host organism, such as bacteria or yeast, to produce the enzyme in large quantities. This recombinant enzyme is used in various biochemical and clinical research applications to study its structure, function, and role in metabolic pathways.