GBE1 : 1,4-alpha-glucan branching enzyme 1
Description
The GBE1 gene encodes the enzyme glycogen branching enzyme (GBE), a crucial component in glycogen metabolism. GBE plays a vital role in the synthesis of glycogen, a complex carbohydrate stored in the liver and muscles for energy. It catalyzes the formation of α-1,6-glycosidic linkages in glycogen, creating branches that increase its storage capacity and facilitate rapid glucose release. Mutations in the GBE1 gene can lead to glycogen storage diseases, particularly Andersen‘s disease, characterized by severe liver and muscle dysfunction.
Associated Diseases
- Andersen‘s disease (glycogen storage disease type IV)
- Hepatic glycogen storage disease type IV
- Muscle glycogen storage disease type IV
Did you know?
GBE1 gene mutations are rare, affecting approximately 1 in 100,000 individuals.
