| Entrez gene ID | | 2992 |
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| Official gene symbol | | GYG1 |
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| Full name | | glycogenin 1 |
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| Aliases | | ,GYG, |
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| Gene summary | | This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified. |
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| Location | | Chromosome: 3 Locus: 3q24-q25.1 |
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| Gene position | | 148709195 - 148745456 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 36262 bp |
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| Gene sequence |
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| OMIM ID | | 603942 |
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