靶标:
PYGM
产品别名:
GSD5; PYGM; glycogen phosphorylase, muscle associated; glycogen phosphorylase, muscle associated; glycogen phosphorylase, muscle form; myophosphorylase; phosphorylase, glycogen, muscle; 糖原磷酸化酶M(PYGM); 肌肉糖原酶;
背景信息:
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],