PYGM
Function
Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.
Involvement in disease
Glycogen storage disease 5
GSD5
A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
Sequence Similarities
Belongs to the glycogen phosphorylase family.
Alternative names
Myophosphorylase, PYGM