Human Glycogen debranching enzyme ELISA Kit | AGL elisa kit
Human Glycogen debranching enzyme ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
GDE: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6- glucosidase in glycogen degradation. Defects in AGL are the cause of glycogen storage disease type 3 (GSD3); also known as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. Three GSD3 types are recognized: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme- deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Belongs to the glycogen debranching enzyme family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - starch and sucrose; EC 2.4.1.25; EC 3.2.1.33; Hydrolase; Transferase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 1p21.2
Cellular Component: cytoplasm; cytosol; extracellular region; isoamylase complex
Molecular Function: 4-alpha-glucanotransferase activity; amylo-alpha-1,6-glucosidase activity; glycogen debranching enzyme activity; protein binding
Biological Process: glycogen catabolic process; neutrophil degranulation
Disease: Glycogen Storage Disease Iii
Research Articles on AGL
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Product Notes
The Human AGL agl (Catalog #AAA9427551) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9427551 ELISA Kit recognizes Human AGL. It is sometimes possible for the material contained within the vial of "Glycogen debranching enzyme, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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