Anti-PYGM Antibody, Rabbit Polyclonal from MyBioSource.com

Muscle glycogen phosphorylase (PYGM) is a key enzyme in the first step of glycogenolysis and has been shown to catalyze the degradation of glycogen to glucose-1-phosphate. The PYGM gene codifies myophosphorylase and to date, 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense. However, c.148C>T (commonly known as p.R50X) is the most frequent mutation in the majority of the studied populations. Mutation in the PYGM gene leads to autosomal recessive McArdle disease. McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). Patients suffer from exercise intolerance with premature fatigue, muscle cramps, and myalgia due to a lack of available glucose in muscles