Aliases for PGM1 Gene
External Ids for PGM1 Gene
Previous GeneCards Identifiers for PGM1 Gene
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
GeneCards Summary for PGM1 Gene
PGM1 (Phosphoglucomutase 1) is a Protein Coding gene. Diseases associated with PGM1 include Congenital Disorder Of Glycosylation, Type It and Fetal Macrosomia. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include magnesium ion binding and phosphoglucomutase activity. An important paralog of this gene is PGM5.
UniProtKB/Swiss-Prot for PGM1 Gene
This enzyme participates in both the breakdown and synthesis of glucose.