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FIGURE: 1 / 3
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described.
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Protein Aliases: 1-Apr; 4-glucantransferase; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III); amylo-1,6-glucosidase, 4-alpha-glucanotransferase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided; Glycogen debrancher; Glycogen debranching enzyme; glycogen debranching protein; Oligo-1
Gene Aliases: 1110061O17Rik; 9430004C13Rik; 9630046L06Rik; AGL; AI850929; C77197; GDE
UniProt ID: (Human) P35573
Entrez Gene ID: (Human) 178, (Rat) 362029, (Mouse) 77559
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