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.
AGL; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase; amylo 1, 6 glucosidase, 4 alpha glucanotransferase; glycogen debranching enzyme; glycogen storage disease type III; 9430004C13Rik; 9630046L06Rik; AI850929; C77197; 1110061O17Rik; Amylo 1 6 glucosidase 4 alpha glucanotransferase; GDE; Glycogen debrancher; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase