Rabbit anti-Human PYGM Polyclonal Antibody | anti-PYGM antibody

Anti-PYGM Antibody, Rabbit Polyclonal

Cat. Num. AAA8109666

• Reactivity: Human
• Applications: Immunohistochemistry
• Purity: Protein A & Antigen Affinity
• Synonyms: PYGM; Polyclonal Antibody; Anti-PYGM Antibody; Rabbit Polyclonal; PYGM Antibody; Rabbit PAb; Antigen Affinity Purified; phosphorylase; glycogen; muscle; anti-PYGM antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human PYGM
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; PBS, pH7.0 with 0.03% Proclin300

• Applicable Applications for anti-PYGM antibody: Immunohistochemistry-Paraffin (IHC-P)
• Application Notes: IHC-P: 1:50-1:200
• Immunogen: E Coli-derived Human PYGM fragment
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with E Coli-derived Human PYGM fragment, and purified by antigen affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Avoid repeated freeze-thaw cycles.

Immunohistochemistry (IHC)

(Immunochemical staining of human PYGM in human skeletal muscle with rabbit polyclonal antibody at 1:100 dilution, formalin-fixed paraffin embedded sections.)

Related Product Information for anti-PYGM antibody

Muscle glycogen phosphorylase (PYGM) is a key enzyme in the first step of glycogenolysis and has been shown to catalyze the degradation of glycogen to glucose-1-phosphate. The PYGM gene codifies myophosphorylase and to date, 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense. However, c.148C>T (commonly known as p.R50X) is the most frequent mutation in the majority of the studied populations. Mutation in the PYGM gene leads to autosomal recessive McArdle disease. McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). Patients suffer from exercise intolerance with premature fatigue, muscle cramps, and myalgia due to a lack of available glucose in muscles.

References

Nogales-Gadea G, et al. (2015) Mcardle disease: Update of reported mutations and polymorphisms in the pygm gene. Hum Mutat 36 (7): 669-678.Nam GH, et al. (2011) Genomic structure and expression analyses of the pygm gene in the thoroughbred horse. Zoolog Sci 28 (4): 276-280.Migocka-Patrzałek M, et al. (2020) The effect of muscle glycogen phosphorylase (pygm) knockdown on zebrafish morphology. Int J Biochem Cell Biol 118 105658.Garcia-Consuegra I, et al. (2018) Missense mutations have unexpected consequences: The mcardle disease paradigm. Hum Mutat 39 (10): 1338-1343.