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.
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.
Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
Belongs to the glycogen phosphorylase family.
Myophosphorylase, PYGM
Proteins
Cardiovascular
97092Da
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