Glycogen phosphorylase, muscle associated (PYGM) encodes glycogen phosphorylase or myophosphorylase. In human chromosome, the gene PYGM is localized on 11q13.1.
Immunogen
PYGM (NP_005600, 703-737) This antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected from the C-terminal region of human PYGM.
Biochem/physiol Actions
PYGM catalyses and regulates the breakdown of glycogen to glucose-1-phosphate. Defects in PYGM are the cause of Glycogenosis type V/ glycogen storage disease type 5 (GSD5), also known as McArdle disease/ myophosphorylase deficiency, is an autosomal recessive disorder. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
Physical form
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide.
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Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Glycogen storage diseases: diagnosis, treatment and outcome
Chen MA and Weinstein DA
Translational Science of Rare Diseases, 1(1), 45-72 (2016)
Analysis of loss of heterozygosity on chromosome 11 and infrequent inactivation of the MEN1 gene in sporadic pituitary adenomas
Tanaka C, et al.
The Journal of Clinical Endocrinology and Metabolism, 83(8), 2631-2634 (1998)
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease
Nogales-Gadea G, et al.
Brain, 135(7), 2048-2057 (2012)
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