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GDE 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. Defects in AGL are the cause of glycogen storage disease type 3 (GSD3); also known as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. Three GSD3 types are recognized: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme- deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Belongs to the glycogen debranching enzyme family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - starch and sucrose; EC; EC; Hydrolase; Transferase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 1p21.2
Cellular Component: cytoplasm; cytosol; extracellular region; inclusion body; isoamylase complex; nucleus; sarcoplasmic reticulum
Molecular Function: 4-alpha-glucanotransferase activity; amylo-alpha-1,6-glucosidase activity; glycogen debranching enzyme activity; polysaccharide binding; polyubiquitin modification-dependent protein binding; protein binding
Biological Process: glycogen biosynthetic process; glycogen catabolic process; neutrophil degranulation; response to glucocorticoid stimulus; response to nutrient
Disease: Glycogen Storage Disease Iii
Reference #:  P35573 (UniProtKB)
Alt. Names/Synonyms: 4-alpha-glucanotransferase; AGL; amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; Amylo-1,6-glucosidase; amylo-1,6-glucosidase, 4-alpha-glucanotransferase; Amylo-alpha-1,6-glucosidase; Dextrin 6-alpha-D-glucosidase; GDE; Glycogen debrancher; Glycogen debranching enzyme; Oligo-1,4-1,4-glucantransferase
Gene Symbols: AGL
Molecular weight: 174,764 Da
Basal Isoelectric point: 6.31  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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