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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 1-Apr; 4-alpha-glucanotransferase; 4-glucantransferase; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; Amylo-1,6-glucosidase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided; Amylo-alpha-1,6-glucosidase; Dextrin 6-alpha-D-glucosidase; Glycogen debrancher; Glycogen debranching enzyme; glycogen debranching protein; Oligo-1; Oligo-1,4-1,4-glucantransferase
基因别名: AGL; GDE
UniProt ID: (Human) P35573
Entrez Gene ID: (Human) 178