Aliases for AGL Gene
External Ids for AGL Gene
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]
GeneCards Summary for AGL Gene
AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include glycogen storage disease iiia and finger agnosia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include polyubiquitin binding and glycogen debranching enzyme activity.
UniProtKB/Swiss-Prot for AGL Gene
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation