| GENE NAME | PYGM |
| CHROMOSOME | 11 |
| ENSEMBL ID | ENSG00000068976 |
| ENTREZ ID | 5837 |
| UNIPROT ACCESSION NUMBER | P11217 |
| GO MOLECULAR FUNCTION | pyridoxal phosphate binding; transferase activity; glycosyltransferase activity; nucleotide binding; glycogen phosphorylase activity; linear malto-oligosaccharide phosphorylase activity; catalytic activity; 1,4-alpha-oligoglucan phosphorylase activity; SHG alpha-glucan phosphorylase activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-71387; hsa04922; R-HSA-1430728; hsa01100; hsa04910; R-HSA-70221; hsa00500; R-HSA-8982491; hsa04217; hsa04931 |
| 2 combinations linked to PYGM | OLI461; OLI806 |
| 2 variants linked to PYGM | PYGM:c.145_146delCCinsTA, p.Pro49Ter; PYGM:c.1159C>T, p.Arg387Cys |
| 2 diseases linked to PYGM | Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Recurrent exertional rhabdomyolysis |