The PGAM2 gene is located on chromosome 7 in humans and on chromosome 11 in mice . It consists of three exons and two introns. The gene encodes a dimeric enzyme that exists in different isoforms depending on the tissue type. The muscle-specific isoform is known as PGAM-M, while the brain-specific isoform is PGAM1 .
PGAM2 is essential for efficient energy production in muscle cells. It is involved in the glycolytic pathway, which is a series of reactions that break down glucose to produce energy in the form of adenosine triphosphate (ATP). The enzyme’s activity is crucial for maintaining the energy balance in muscle tissues, especially during intense physical activity .
Mutations in the PGAM2 gene can lead to a condition known as muscle phosphoglycerate mutase deficiency, also referred to as glycogen storage disease type X. This condition is characterized by exercise intolerance, muscle cramps, and myoglobinuria. Patients with this deficiency have a reduced ability to produce ATP through glycolysis, leading to muscle fatigue and weakness .