gene: PYGM
| id | 5837 |
|---|---|
| symbol | PYGM |
| organism | Homo sapiens |
| full name | glycogen phosphorylase, muscle associated |
| 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] |
| variant-disease |
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) AND Glycogen storage disease, type V PYGM, IVS14, G-A, +1 AND Glycogen storage disease, type V NM_005609.4(PYGM):c.1725del (p.Lys575fs) AND Glycogen storage disease, type V NM_005609.4(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V NM_005609.4(PYGM):c.1569C>G (p.Leu523=) AND not specified ... 351 more |
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