AGL
MIM.610860 GENATLAS
The AGL gene encodes the glycogen debrancher enzyme, a large monomeric protein with a molecular mass of approximately 160 kD. The enzyme has 2 catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).
The 2 activities are determined at separate catalytic sites on the polypeptide chain and can function independently of each other. Both activities and glycogen binding are required for complete function (Shen et al., 1996; Endo et al., 2006).
References
germline mutations in glycogen storage disease type III (GSD3)
- glycogen storage disease type IIIa (MIM.232400)
- glycogen storage disease type IIIb (MIM.232400)