AGL

The protein encodes glycogen debrancher enzyme, which degrades glycogen through two distinct catalytic activities: 4-alpha-glucotransferase and amylo-1,6-glucosidase. Mutations cause autosomal recessive glycogen storage disease III, with subtypes IIIa and IIIb showing variable enzymatic deficiency and clinical severity likely due to tissue-specific alternative splicing. The disease results from impaired glycogen breakdown leading to abnormal glycogen accumulation in affected tissues.