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.
1-Apr; 4-alpha-glucanotransferase; 4-glucantransferase; AGL; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; Amylo-1,6-glucosidase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided; Amylo-alpha-1,6-glucosidase; Dextrin 6-alpha-D-glucosidase; GDE; glycogen debrancher; Glycogen debranching enzyme; glycogen debranching protein; Oligo-1; Oligo-1,4-1,4-glucantransferase
400 µL
100 µL
50 µg