PGAM2

PGAM2 (Phosphoglycerate mutase 2) is an enzyme that in humans is encoded by the PGAM2 gene. This enzyme is involved in the glycolysis pathway, a metabolic pathway that breaks down glucose for energy production.

Function

PGAM2 is a glycolytic enzyme that catalyzes the conversion of 3-phosphoglycerate to 2-phosphoglycerate. This reaction is a crucial step in the glycolytic pathway, which is the primary metabolic pathway for the breakdown of glucose to produce adenosine triphosphate (ATP), the main energy currency of the cell.

Clinical significance

Mutations in the PGAM2 gene have been associated with a rare metabolic disorder known as PGAM2 deficiency. This condition is characterized by muscle weakness and fatigue, particularly during exercise. It is a type of glycogen storage disease, which are disorders that affect the body's ability to metabolize glycogen, a stored form of energy.

Genetics

The PGAM2 gene is located on the short (p) arm of chromosome 7 at position 13.3, from base pair 44,031,880 to base pair 44,036,879.

See also

• Phosphoglycerate mutase
• Glycolysis
• Glycogen storage disease

External links

• NCBI Gene
• Genetics Home Reference