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Location
Corporate Headquarters
Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
Telephone Numbers
Customer Service: (800) 227-6666 / (650) 697-3600
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AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Glycogen debranching enzyme is involved in glycogen degradation and has two independent catalytic activities: a 4-alpha-glucotransferase activity (EC 2.4.1.25) and a amylo-1,6-glucosidase activity (EC 3.4.1.33). Both activities occur at different sites on the single polypeptide chain. Mutations in this gene cause glycogen storage disease. A wide range of clinical and enzymatic variability occurs in glycogen debrancher deficiency, some of which may be due to tissue-specific alternative splicing. Six splice variants that differ in the 5' end have been identified in liver and muscle tissue. Variants 1, 5, and 6 are present in both liver and muscle, whereas variants 2, 3, and 4 occur in muscle. Variants 1 through 4 encode identical proteins (isoform 1) that include 27 N-terminal amino acids not found in splice variants 5 and 6. Variants 5 and 6 encode different amino-terminal ends of 10 and 11 amino acids in protein isoforms 2 and 3, respectively, with the remainder of the peptide identical to that of isoforms 1.
| Gene Name: | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
| Synonyms: | AGL, GDE, Glycogen debrancher, Glycogen debranching enzyme |
| Target Sequences: | NM_000028 NP_000019.2 P35573 |
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