Gene Symbol | PYGM |
Entrez Gene ID | 5837 |
Full Name | glycogen phosphorylase, muscle associated |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | McArdle disease, 232600 (3) |