Western blot using AGL polyclonal antibody (Cat # PAB4298) at 1 : 500 dilution . A total of 20 ug of lysates was loaded for each tissue . Data courtesy of Dr . Alan Cheng, Department of Internal Medicine, Life Sciences Institute, University of Michigan Medical Center, Ann Arbor, Michigan .
Expression of myc-GS causes wild type but not the CBD mutant of AGL to aggregate around the PAS-stain-positive inclusions. HepG2 cells were transfected with either HA-tagged wild-type AGL (HA-AGL) or HA-AGL CBD. Cells were fixed in formalin and processed for IF using anti-HA (green) and anti-myc (red) antibodies. White arrows indicate colocalization of HA-AGL and myc-GS.
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