AGL Chromosome 1
Amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
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What This Gene Does
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]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000162688
Associated Conditions (15)
Glycogen storage disease type III
Inborn genetic diseases
AGL-related disorder
Cervical cancer
Nonpapillary renal cell carcinoma
Glycogen storage disease IIIb
Glycogen storage disease IIIc
Colon adenocarcinoma
Glycogen storage disease IIIa
Acute rhabdomyolysis
Glycogen storage disease
Thyroid cancer
nonmedullary
1
Abnormality of metabolism/homeostasis
Key Variants
RS12117747
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1227779911
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1275707003
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1288036533
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS1332399736
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS137943515
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
RS138063386
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Glycogen storage disease type III
Health Risk
RS138105395
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, AGL-related disorder
Health Risk
RS138134718
Conflicting classifications of pathogenicity
Glycogen storage disease type III, AGL-related disorder, Glycogen storage disease type III
Health Risk
RS138823746
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
RS139399527
Conflicting classifications of pathogenicity
Glycogen storage disease type III, AGL-related disorder, Cervical cancer
Health Risk
RS139488862
Conflicting classifications of pathogenicity
Glycogen storage disease type III, Inborn genetic diseases, Glycogen storage disease type III
Health Risk
All Variants (570)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS539108137 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS745757264 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III, Glycogen storage disease type III |
| RS754978531 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS757987101 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Colon adenocarcinoma, Glycogen storage disease type III |
| RS762545015 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS762602838 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS763554006 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS764591009 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS766536350 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease IIIa, Glycogen storage disease type III |
| RS767346840 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS767529587 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS774652075 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III, Glycogen storage disease type III |
| RS775685508 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS777120567 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS777857395 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease, Glycogen storage disease type III |
| RS786204489 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS794727706 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS867341758 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS946922101 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |
| RS971749992 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease type III, Glycogen storage disease type III |