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PGM1 / Phosphoglucomutase 1
phosphoglucomutase 1
PGM1 / Phosphoglucomutase 1 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.
| Gene Name: | phosphoglucomutase 1 |
| Synonyms: | PGM1, CDG1T, Glucose phosphomutase 1, GSD14, Phosphoglucomutase 1, PGM 1, Phosphoglucomutase-1, Phosphoglucomutase |
| Target Sequences: | NM_002633 NP_002624.2 P36871 |
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