Gene Symbol | AGL |
Entrez Gene ID | 178 |
Full Name | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
Synonyms | GDE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease IIIb, 232400 (3) |