GENETIC ENCYCLOPEDIA
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gene: PYGM

id5837
symbolPYGM
organismHomo sapiens
full nameglycogen phosphorylase, muscle associated
summaryThis 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.564C>A (p.Asn188Lys) AND Glycogen storage disease, type V

... 351 more


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