Gene: AGL

Alternate names for this Gene: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p21.2

Description of this Gene: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Type of Gene: protein-coding

rs12118058 in AGL gene and Glycogen Storage Disease PMID 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.

PMID 26984562 2016 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

PMID 25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

PMID 9412782 1998 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.

rs193186112 in AGL gene and Glycogen Storage Disease IIIA PMID 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.

PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

PMID 12442284 2002 Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

PMID 26913919 2016 Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

PMID 16705713 2006 Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

PMID 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.

PMID 23430490 2013 Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

PMID 23062577 2012 Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

PMID 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.

PMID 23507172 2013 Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

PMID 27460348 2016 Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

rs113994127 in AGL gene and Glycogen Storage Disease IIIB PMID 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.

PMID 20490926 2010 Glycogen storage disease type III in the Irish population.

PMID 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.

PMID 20526204 2010 Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.

rs1057516397 in AGL gene and Glycogen Storage Disease Type III PMID 16705713 2006 Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

PMID 11977176 2002 Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

PMID 19951495 2009 [Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].

PMID 11757581 2001 Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

PMID 26984562 2016 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

PMID 20490926 2010 Glycogen storage disease type III in the Irish population.

PMID 23430490 2013 Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

PMID 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.

PMID 20648714 2010 Although most patients with Glycogen Storage Disease Type III have private mutations, common mutations have been identified in some populations, and two specific mutations in exon 3, c.18_19delGA (p.Gln6HisfsX20) and c.16C>T (p.Gln6X), are associated with the Glycogen Storage Disease Type IIIb phenotype.

PMID 20071996 2010 The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

PMID 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.

PMID 11378828 2001 Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.

PMID 29614965 2018 Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

PMID 22089644 2012 Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

PMID 12955720 2003 Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

PMID 17047887 2006 We investigated nine GSD III patients from Germany, Canada, Afghanistan, Iran, and Turkey and identified six novel AGL mutations: one nonsense (W255X), three deletions (1019delA, 3202-3203delTA, and 1859-1869del11-bp), and two splicing mutations (IVS7 + 5G > A and IVS21 + 5insA), together with three previously reported ones (R864X, W1327X, and IVS21 + 1G > A).

PMID 25451950 2015 Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

PMID 10655153 2000 Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

PMID 9412782 1998 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.

PMID 17994282 2007 Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

PMID 29374762 2018 Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

PMID 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.

PMID 25388549 2015 Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

PMID 27106217 2016 Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

PMID 9332391 1997 Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.

PMID 11949933 2002 Molecular characterization of glycogen storage disease type III.

PMID 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.

PMID 26885414 2016 A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.

PMID 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.

PMID 15542399 2004 DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

PMID 15833157 2005 [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].

PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

PMID 11924557 2002 Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

PMID 10982190 2000 Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

PMID 18785866 2008 Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

PMID 8702417 1996 A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.

PMID 19951465 2009 [Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].

PMID 24257475 2014 A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

PMID 10472540 1999 Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

PMID 23207808 2013 The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia.

PMID 16189622 2005 Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

PMID 12442284 2002 Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

PMID 18924225 2008 Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.

PMID 25827695 2015 A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.

PMID 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.

PMID 21691223 2012 Delayed diagnosis of glycogen storage disease type III.

PMID 23062577 2012 Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

PMID 9584265 1998 Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

PMID 23430832 2011 Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease.

PMID 21321962 2011 Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC.

PMID 25431232 2014 Glycogen storage disease type III: modified Atkins diet improves myopathy.

PMID 25451272 2014 Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.

PMID 17895567 2007 A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.

PMID 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.

PMID 23430941 2012 Cardiac Pathology in Glycogen Storage Disease Type III.

PMID 19299494 2009 Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.

PMID 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.

PMID 24495762 2013 [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].

PMID 24824133 2015 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

PMID 18617770 2008 An adult case of glycogen storage disease type IIIa.