NP_000019.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
172,696 Da
NCBI Official Full Name
glycogen debranching enzyme isoform 1
NCBI Official Synonym Full Names
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
NCBI Official Synonym Symbols
NCBI Protein Information
glycogen debranching enzyme
UniProt Protein Name
Glycogen debranching enzyme
UniProt Synonym Protein Names
Glycogen debrancherIncluding the following 2 domains:4-alpha-glucanotransferase (EC:2.4.1.25)Alternative name(s):Oligo-1,4-1,4-glucantransferase
UniProt Synonym Gene Names
UniProt Entry Name
GDE_HUMAN
NCBI Summary for AGL
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]
UniProt Comments for AGL
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.
Protein type: EC 3.2.1.33; Ubiquitin conjugating system; Carbohydrate Metabolism - starch and sucrose; Hydrolase; Transferase; EC 2.4.1.25
Chromosomal Location of Human Ortholog: 1p21
Cellular Component: nucleoplasm; sarcoplasmic reticulum; cytoplasm; isoamylase complex; inclusion body; cytosol
Molecular Function: protein binding; glycogen debranching enzyme activity; 4-alpha-glucanotransferase activity; polyubiquitin binding; amylo-alpha-1,6-glucosidase activity; polysaccharide binding
Biological Process: glycogen biosynthetic process; glycogen catabolic process; response to glucocorticoid stimulus; carbohydrate metabolic process; glucose metabolic process; pathogenesis; response to nutrient
Disease: Glycogen Storage Disease Iii
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Products associated with AGL sirna
Pathways associated with AGL sirna
Diseases associated with AGL sirna
Organs/Tissues associated with AGL sirna
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