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AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Also known as: GDE

Summary

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Genomic context

Location:
1p21
Sequence:
Chromosome: 1; NC_000001.11 (99850077..99924023)
Total number of exons:
36

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