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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AGL (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID178
Official gene symbolAGL
Full nameamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Aliases,GDE,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1p21
Gene position100315640 - 100389579  Map Viewer
Gene orientationplus
Gene size73940 bp
Gene sequence
OMIM ID610860