NCBI Description of PGM1
|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.|
Community Annotation of PGM1 Add / Edit PGM1: Annotations
No community annotations yet for PGM1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.