AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Gene ID: 178, updated on 7-Apr-2024Gene type: protein coding
Also known as: GDE
- See all available tests in GTR for this gene
- Go to complete Gene record for AGL
- Go to Variation Viewer for AGL variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of lung function decline in adults with and without asthma. GeneReviews: Not available | |
| Glycogen storage disease type III | See labs |
| White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. GeneReviews: Not available |
Genomic context
- Location:
- 1p21.2
- Sequence:
- Chromosome: 1; NC_000001.11 (99849258..99924023)
- Total number of exons:
- 37
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AGL database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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