PGM1 This enzyme participates in both the breakdown and synthesis of glucose. Defects in PGM1 are the cause of glycogen storage disease type 14 (GSD14). A metabolic disorder resulting in a myopathy characterized by exercise-induced intolerance with episodes of rhabdomyolysis, normal elevation of lactate, and hyperammonemia on a forearm-exercise test. Belongs to the phosphohexose mutase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; Carbohydrate Metabolism - galactose; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - pentose phosphate pathway; Carbohydrate Metabolism - starch and sucrose; EC; Isomerase
Chromosomal Location of Human Ortholog: 4 C6|4 45.71 cM
Cellular Component:  actin cytoskeleton; cytoplasm; cytosol; Z disc
Molecular Function:  intramolecular transferase activity, phosphotransferases; isomerase activity; magnesium ion binding; metal ion binding; phosphoglucomutase activity
Biological Process:  carbohydrate metabolic process; galactose catabolic process; glucose metabolic process; glycogen biosynthetic process; organic substance metabolic process
Reference #:  Q9D0F9 (UniProtKB)
Alt. Names/Synonyms: 2610020G18Rik; AA407108; AI098105; Glucose phosphomutase 1; OTTMUSP00000008342; PGM 1; Pgm-2; Pgm1; Pgm2; phosphoglucomutase 1; phosphoglucomutase 2; Phosphoglucomutase-1
Gene Symbols: Pgm1
Molecular weight: 61,418 Da
Basal Isoelectric point: 6.14  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene