{"symbol":"AGL","synonyms":["GDE"],"name":"amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase","description":"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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":178,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/178","proteins":[{"symbol":"GDE_HUMAN","href":"/api/1.0/protein/GDE_HUMAN"}],"hgncRootFamilies":[]}