Aliases for PYGM Gene
External Ids for PYGM Gene
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
GeneCards Summary for PYGM Gene
PYGM (Phosphorylase, Glycogen, Muscle) is a Protein Coding gene. Diseases associated with PYGM include mcardle disease and muscle glycogenosis. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include nucleotide binding and glycogen phosphorylase activity. An important paralog of this gene is PYGL.
UniProtKB/Swiss-Prot for PYGM Gene
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties