| Entrez gene ID | | 5236 |
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| Official gene symbol | | PGM1 |
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| Full name | | phosphoglucomutase 1 |
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| Aliases | | ,GSD14, |
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| Gene summary | | 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. |
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| Location | | Chromosome: 1 Locus: 1p31 |
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| Gene position | | 64058947 - 64125916 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 66970 bp |
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| Gene sequence |
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| OMIM ID | | 171900 |
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