AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)

2016-08-01  

Identity

HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
GDE

Other Information

Locus ID:

NCBI: 178
MIM: 610860
HGNC: 321
Ensembl: ENSG00000162688

Variants:

dbSNP: 178
ClinVar: 178
TCGA: ENSG00000162688
COSMIC: AGL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162688ENST00000294724P35573
ENSG00000162688ENST00000294724A0A0S2A4E4
ENSG00000162688ENST00000361302A0A1C7CYW1
ENSG00000162688ENST00000361915P35573
ENSG00000162688ENST00000361915A0A0S2A4E4
ENSG00000162688ENST00000370161P35573
ENSG00000162688ENST00000370163P35573
ENSG00000162688ENST00000370163A0A0S2A4E4
ENSG00000162688ENST00000370165P35573
ENSG00000162688ENST00000370165A0A0S2A4E4

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179089272007A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.46
269750212016Metabolic phenotype of bladder cancer.34
113788282001Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
170478872006Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.10
192994942009Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.10
179155762007Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.9
264903122016Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.9
206487142010Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.7

Citation

Dessen P

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55879/agl