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Glycogen Phosphorylase, Muscle (PYGM)

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GPMM; Phosphorylase,Glycogen; McArdle Syndrome,Glycogen Storage Disease Type V; Myophosphorylase

Glycogen Phosphorylase, Muscle (PYGM)
CCC A848
HGNC 9726
MGI 97830
PubMed 8772483
RGD 3461
UniProt P11217

Mutations in the muscle isoform of glycogen phosphorylase (PYGM) are associated with McArdle disease (glycogen storage disease type V). More than 65 mutations in the PYGM gene that lead to McArdle disease have been identified to date.Gautron et al. (1987) isolated muscle phosphorylase cDNA clones from a human cDNA library. Northern blot experiments revealed 1 specific mRNA of 3.4 kb found uniquely in tissues expressing muscle phosphorylase.

The muscle glycogen phosphorylase protein comprises 842 amino acids (Kubisch et al., 1998).Burke et al. (1987) determined the intron/exon structure of the PYGM gene. Kubisch et al. (1998) provided a revised genomic structure for the PYGM gene, which contains 20 exons.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA848Hu01 Recombinant Glycogen Phosphorylase, Muscle (PYGM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA848Hu01 Polyclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB; IHC; ICC; IP.
MAA848Hu22 Monoclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB; IHC; ICC; IP.
Assay Kits SEA848Hu ELISA Kit for Glycogen Phosphorylase, Muscle (PYGM) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA848Mu01 Recombinant Glycogen Phosphorylase, Muscle (PYGM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA848Mu01 Polyclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB,IHC,ICC/IF
LAA848Mu71 Biotin-Linked Polyclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for Glycogen Phosphorylase, Muscle (PYGM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glycogen Phosphorylase, Muscle (PYGM) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA848Ra01 Recombinant Glycogen Phosphorylase, Muscle (PYGM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA848Ra01 Polyclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB; IHC; ICC; IP.
MAA848Ra21 Monoclonal Antibody to Glycogen Phosphorylase, Muscle (PYGM) WB; IHC; ICC; IP.
Assay Kits SEA848Ra ELISA Kit for Glycogen Phosphorylase, Muscle (PYGM) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase."Proteins 2:177-187(1987) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation."Hum. Mutat. 12:27-32(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs."Eur. J. Biochem. 152:267-274(1985) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis."J. Clin. Invest. 79:275-281(1987) [PubMed] [Europe PMC] [Abstract]
  8. "Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties."J. Biol. Chem. 250:4980-4985(1975) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)."N. Engl. J. Med. 329:241-245(1993) [PubMed] [Europe PMC] [Abstract]
  10. "Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)."Hum. Mutat. 6:276-277(1995) [PubMed] [Europe PMC] [Abstract]
  11. "The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)."Muscle Nerve 3:S23-S27(1995) [PubMed] [Europe PMC] [Abstract]
  12. "Mutation analysis in myophosphorylase deficiency (McArdle's disease)."Ann. Neurol. 43:326-331(1998) [PubMed] [Europe PMC] [Abstract]
  13. "A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact."Muscle Nerve 22:1136-1138(1999) [PubMed] [Europe PMC] [Abstract]
  14. "A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease."Neuromuscul. Disord. 9:171-173(1999) [PubMed] [Europe PMC] [Abstract]
  15. "McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient."Neuromuscul. Disord. 9:174-175(1999) [PubMed] [Europe PMC] [Abstract]
  16. "A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease."Arch. Neurol. 57:217-219(2000) [PubMed] [Europe PMC] [Abstract]
  17. "A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease."Muscle Nerve 23:129-131(2000) [PubMed] [Europe PMC] [Abstract]
  18. "A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease."Neuromuscul. Disord. 10:138-140(2000) [PubMed] [Europe PMC] [Abstract]
  19. "A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease."Neuromuscul. Disord. 10:447-449(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study."Ann. Neurol. 50:574-581(2001) [PubMed] [Europe PMC] [Abstract]
  21. "Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease."Neuromuscul. Disord. 12:498-500(2002) [PubMed] [Europe PMC] [Abstract]