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For Research Use Only. Not For Clinical Use.
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]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Skeletal myocytes, Late spermatids, Cardiomyocytes, Peritubular cells, Astrocytes)
Immune cell specificity
Immune cell enriched (basophil)
Cell line specificity
Cell line enhanced (HSkMC, NB-4)
Interaction
Homodimer (PubMed:1150650, 16523484). Homotetramer; to form the enzymatically active phosphorylase A (PubMed:1150650).
Molecular function
Allosteric enzyme, Glycosyltransferase, Transferase
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