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GBE1 - 1,4-alpha-glucan branching enzyme 1
- Synonym(s) : Andersen disease, glycogen branching enzyme, glycogen storage disease type IV
- Previous symbols and names : glucan (1,4-alpha-), branching enzyme 1
- Type : gene with protein product
- Chromosomal location : 3p12.2
- OMIM: 607839
- HGNC: 4180
- UniProtKB: Q04446
- Genatlas: GBE1
- GenCC: GBE1
- Ensembl: ENSG00000114480
- IUPHAR-DB: -
- Reactome: Q04446
- LOVD: GBE1
Diseases list
- Disease-causing germline mutation(s) in Adult polyglucosan body disease
ORPHA:206583 
- Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
ORPHA:308712 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
ORPHA:308684 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
ORPHA:308698 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
ORPHA:308670 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
ORPHA:308655 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
ORPHA:308638 - Disease-causing germline mutation(s) in Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
ORPHA:308621
: AssessedAdditional information
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