Entrez gene ID | | 178 |
Official gene symbol | | AGL |
Full name | | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
Aliases | | ,GDE, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p21 |
Gene position | | 100315640 - 100389579 Map Viewer |
Gene orientation | | plus |
Gene size | | 73940 bp |
Gene sequence |
| |
OMIM ID | | 610860 |