AGL, Official Symbol AGLprovided by HGNC Official Full Name amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided by HGNC Primary source HGNC:HGNC:321 See related Ensembl:ENSG00000162688 MIM:610860; AllianceGenome:HGNC:321 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GDE Summary 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] Expression Ubiquitous expression in liver (RPKM 9.7), esophagus (RPKM 9.2) and 25 other tissues See more Orthologs mouse all