Glycogen Debranching Enzyme (AGL)

GDE; Amylo-1,6-Glucosidase; 4-Alpha-Glucanotransferase; Glycogen debrancher; 4-alpha-glucanotransferase; Oligo-1,4-1,4-glucantransferase; Dextrin 6-alpha-D-glucosidase

SPN	T593
HGNC	321
MGI	1924809
PubMed	2961257
RGD	1306376
UniProt	P35573
Wiki	AGL

Debranching enzymes are responsible for transferring three glucose subunits of glycogen from one parallel chain to another. Afterwards, the donator branch will contain only one glucose residue with alpha-1,6 linkage. This remaining residue is in turn cut by alpha-1,6 glucosidase. This two step process is the general process by which the debranching enzymes "straighten out" glycogen into an unbranched glucose polymer.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.

Reference

"Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme."
J. Biol. Chem. 267:9294-9299(1992) [PubMed] [Europe PMC] [Abstract]

"Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region."
Genomics 38:155-165(1996) [PubMed] [Europe PMC] [Abstract]

"Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms."
Gene 197:389-398(1997) [PubMed] [Europe PMC] [Abstract]

"Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan."
Hum. Genet. 106:108-115(2000) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease."
Genes Dev. 21:2399-2409(2007) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient."
Hum. Mutat. 14:542-543(1999) [PubMed] [Europe PMC] [Abstract]