Synonyms:AGL, ENTREZ:178, GDE, HGNC:321, MIM:610860, NM_000028, NM_000642, NM_000643, NM_000644, NM_000645, NM_000646, NP_000019, NP_000633, NP_000634, NP_000635, NP_000637, XM_005270557, XM_017000501, XP_005270614, XP_016855990, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Omim:OMIM:610860
Id:ENSG00000162688
Hgnc:HGNC:321
Description:amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
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]