Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) Associated conditions: 1. Glycogen storage disease type III
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000028.2 | NP_000019.2 | NC_000001.11 | (99849257..99924022) | Reference GRCh38.p14 Primary Assembly | P35573 |
| 2 | REVIEWED | NM_000642.3 | NP_000633.2 | NC_000001.11 | (99849257..99924022) | Reference GRCh38.p14 Primary Assembly | P35573 |
| 3 | REVIEWED | NM_000643.2 | NP_000634.2 | NC_000001.11 | (99849257..99924022) | Reference GRCh38.p14 Primary Assembly | P35573 |
| 4 | REVIEWED | NM_000644.2 | NP_000635.2 | NC_000001.11 | (99849257..99924022) | Reference GRCh38.p14 Primary Assembly | P35573 |
| 5 | REVIEWED | NM_000646.2 | NP_000637.2 | NC_000001.11 | (99849257..99924022) | Reference GRCh38.p14 Primary Assembly | P35573 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | glycogen debranching enzyme activity | Function | - |
| 2 | Homo sapiens | EXP | enables | 4-alpha-glucanotransferase activity | Function | 2961257 |
| 3 | Homo sapiens | IBA | enables | 4-alpha-glucanotransferase activity | Function | 21873635 |
| 4 | Homo sapiens | EXP | enables | amylo-alpha-1,6-glucosidase activity | Function | 2961257 |
| 5 | Homo sapiens | IBA | enables | amylo-alpha-1,6-glucosidase activity | Function | 21873635 |
| 6 | Homo sapiens | IPI | enables | protein binding | Function | 17908927 24837458 |
| 7 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 8 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 9 | Homo sapiens | IDA | located_in | cytoplasm | Component | 17908927 |
| 10 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 11 | Homo sapiens | IEA | involved_in | glycogen biosynthetic process | Process | - |
| 12 | Homo sapiens | IBA | involved_in | glycogen catabolic process | Process | 21873635 |
| 13 | Homo sapiens | TAS | involved_in | glycogen catabolic process | Process | - |
| 14 | Homo sapiens | IEA | involved_in | response to nutrient | Process | - |
| 15 | Homo sapiens | IEA | located_in | inclusion body | Component | - |
| 16 | Homo sapiens | IEA | located_in | sarcoplasmic reticulum | Component | - |
| 17 | Homo sapiens | IEA | enables | polysaccharide binding | Function | - |
| 18 | Homo sapiens | IEA | enables | polyubiquitin modification-dependent protein binding | Function | - |
| 19 | Homo sapiens | TAS | located_in | secretory granule lumen | Component | - |
| 20 | Homo sapiens | TAS | part_of | isoamylase complex | Component | 1374391 |
| 21 | Homo sapiens | IEA | involved_in | response to glucocorticoid | Process | - |
| 22 | Homo sapiens | IEA | enables | beta-maltose 4-alpha-glucanotransferase activity | Function | - |
| 23 | Homo sapiens | TAS | located_in | ficolin-1-rich granule lumen | Component | - |