| GENE NAME | GBE1 |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000114480 |
| ENTREZ ID | 2632 |
| UNIPROT ACCESSION NUMBER | Q04446 |
| GO MOLECULAR FUNCTION | carbohydrate binding; 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis); 1,4-alpha-glucan branching enzyme activity; protein binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-71387; R-HSA-1430728; R-HSA-3322077; hsa01100; R-HSA-5663084; R-HSA-3878781; R-HSA-1643685; R-HSA-8982491; hsa00500; R-HSA-3229121; R-HSA-5668914 |
| 3 combinations linked to GBE1 | OLI807; OLI808; OLI792 |
| 3 variants linked to GBE1 | GBE1:c.1864_1866del, p.Leu622del; GBE1:p.Asp413Asn; GBE1:c.1570C>T, p.Arg524Ter |
| 2 diseases linked to GBE1 | Recurrent exertional rhabdomyolysis; Arthrogryposis syndrome |