AGL
Function
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
Involvement in disease
Glycogen storage disease 3
GSD3
A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked.
Ubiquitinated.
Sequence Similarities
Belongs to the glycogen debranching enzyme family.
Tissue Specificity
Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
Cellular localization
- Cytoplasm
- Under glycogenolytic conditions localizes to the nucleus.
Alternative names
GDE, AGL, Glycogen debranching enzyme, Glycogen debrancher