Property Summary

NCBI Gene PubMed Count 48
PubMed Score 479.46
PubTator Score 156.15

Knowledge Summary


No data available


Protein-protein Interaction (4)

Gene RIF (24)

26975021 AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth.
26252094 Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family.
25827695 Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event.
25602008 A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect.
25451950 AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation.
24257475 study identified 10 different mutations in 8 Korean Glycogen storage disease type III patients; 5 mutations are novel and include 1 nonsense (c.1461G>A, p.W487X), 3 splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and 1 missense mutation (c.2591G>C, p.R864P)
23882694 We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B.
23649758 Characterization of a novel homozygous single point mutation at the polypyrimidine tract of intron 21 of the AGL gene in two consanguineous siblings with glycogen storage disease type III.
22035446 A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20648714 Mutations in amylo-1,6-glucosidase is associated with Glycogen Storage Disease Type III.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20158661 The present patient was found to be deficient in GDE activity and homozygous for a novel 1 bp deletion in AGL. This mutation is predicted to cause premature termination at codon 834 due to frame shift.
19834502 Nine AGL mutations: six nonsense mutations , one deletion and two splicing mutation were identified in Turkish GSD III patients.
19754354 Six novel AGL mutations were identified.
19299494 Mutations in the carbohydrate-binding domain of AGL lead to loss of all enzymatic activities and enhancing targeting for proteasomal degradation.
18924225 a homozygous p.W1327X mutation leads to severe generalized glycogenosis types 3a & 3b within the same family; heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia & fatigue
17915576 Current clinical and molecular knowledge about glycogenosis 3 and phenotype and genotype levels of this enzyme. [REVIEW]
17908927 These results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease.
17047887 AGL gene mutations may have roles in glycogen storage disease type III
15886229 it is likely that the AMPK-GDE association is a novel mechanism regulating AMPK activity and the resultant fatty acid oxidation and glucose uptake
15833157 GSD-III patients have variable phenotypic characteristics. Administration of raw-corn-starch can effectively improve the disease outcome. We identified 8 new mutations on AGL gene through nucleotide sequence analysis.
11924557 Mutations associated with GSD III include R34X and Y1148X.
11378828 Observational study of genetic testing. (HuGE Navigator)

AA Sequence


Text Mined References (50)

PMID Year Title
26975021 2016 Metabolic phenotype of bladder cancer.
26252094 2015 [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
25827695 A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
25451950 2015 Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
24837458 2014 The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24257475 2014 A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
23882694 2013 Anti-retinal antibodies in patients with macular telangiectasia type 2.
23649758 2013 Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
23218918 2013 White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.
22035446 2012 A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21269460 2011 Initial characterization of the human central proteome.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20158661 2010 Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
19834502 2009 Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
19754354 2009 Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.
19299494 2009 Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
18924225 2008 Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17915576 2007 Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
17908927 2007 A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
17047887 2006 Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15886229 2005 Glycogen debranching enzyme association with beta-subunit regulates AMP-activated protein kinase activity.
15833157 2005 [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11378828 2001 Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
10982190 2000 Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
10925384 2000 Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
10571954 1999 Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
9490286 1998 A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
9412782 A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
9332391 1997 Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.
8990006 1997 A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
8954797 1996 Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.
8755644 1996 Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
8702417 1996 A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
2961257 1987 Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.
2295969 1990 Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
1505983 1992 Assignment of the human glycogen debrancher gene to chromosome 1p21.
1374391 1992 Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.
933239 1976 Electronystagmographic findings in cerebellar dysfunction.