Recombinant Human Glycogen phosphorylase, muscle form(PYGM)

Code CSB-EP019123HU
Size US$1675
  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names PYGM
Uniprot No. P11217
Research Area Cancer
Alternative Names Glycogen phosphorylase; Glycogen phosphorylase muscle form ; muscle form; Muscpho; Myophosphorylase; Phosphorylase glycogen muscle (McArdle syndrome glycogen storage disease type V); Pygm; PYGM_HUMAN
Species Homo sapiens (Human)
Source E.coli
Expression Region 2-842aa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 101.1kDa
Protein Length Full Length of Mature Protein
Tag Info N-terminal 6xHis-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

Target Data

Function Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Gene References into Functions
  1. Results show that PYGM and RAC1 are altered in the dorsolateral prefrontal cortex in chronic schizophrenia and are controlled by NMDA signaling in the rodent cortex and cortical astrocytes suggesting an altered NMDA-dependent glycogenolysis in astrocytes in schizophrenia. PMID: 27156240
  2. This report expands the phenotype and genotype of McArdle disease and suggests that PYGM mutations should be looked for in patients with very late-onset myopathy with no previous history of exercise intolerance PMID: 28120463
  3. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies PMID: 26913921
  4. Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome. PMID: 27525900
  5. update of the reported mutations and polymorphisms in the PYGM gene [review] PMID: 25914343
  6. study found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients (p<0.001); PYGM mRNA levels were also lower in white blood cells from McArdle patients PMID: 25240406
  7. biological significance of this PKCtheta;/alphaPIX/Rac 1 GTPase/PYGM signaling pathway seems to be the control of different cellular responses such as migration and proliferation PMID: 25694429
  8. 5 different PYGM mutations were found in 8 Brazilian families: 4 previously described (p.R50X, p.T692kfs30, p.K609K, and p.G455R), and one, pI513V, a novel heterozygous mutation. PMID: 23653251
  9. a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region PMID: 22608882
  10. a new role for Rac1 in cell signaling, showing that this GTPase triggers T-cell proliferation upon IL-2 stimulation by associating with PYGM and modulating its enzymatic activity. PMID: 22337875
  11. No genotype-phenotype correlation is evident and that no gender effect is related to the phenotype of McArdle's disease (PYGM gene) in a cohort of 123 European McArdle's disease patients. PMID: 21802952
  12. The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease PMID: 21880526
  13. This study demonistrated that PYGM mutation in McArdle disease. PMID: 21658951
  14. indicate that in both patients' and controls' cell cultures, unlike in skeletal muscle tissue, most of the protein and GP activities result from the expression of brain GP and liver GP genes PMID: 20957198
  15. McArdle disease may be caused by a R269X nonsense mutation in this gene. PMID: 11749054
  16. two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease; both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele PMID: 12031624
  17. molecular genetic study of McArdle's disease in Yemenite-Jewish patients expands the already remarkable genetic heterogeneity of McArdle's disease and suggests the existence of ethnic or private mutations within this group. PMID: 12398832
  18. In Mcardle's disease (deficiency of this enzyme) efferent muscle sympathetic nerve activity (MSNA) is attenuated. PMID: 12640006
  19. the muscle subtype of glycogen phosphorylase mRNA level is up-regulated in preeclampsia in placenta PMID: 14662163
  20. A new autosomal dominant gene mutation in McArdle disease. PMID: 15979037
  21. We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). PMID: 16154688
  22. muscle isoform of human glycogen phosphorylase has structural differences that are consistent with the long-known kinetic differences between the liver and muscle enzymes PMID: 16523484
  23. 19 novel mutations within the PYGM gene are associated with McArdle disease. PMID: 16786513
  24. findings further demonstrate molecular heterogeneity of myophosphorylase deficiency, absence of genotype-phenotype correlation and expand the already crowded map of mutations within the myophosphorylase gene PMID: 17324573
  25. The study further extends the genetic heterogeneity of myophosphorylase gene mutations showing no mutational hotspot and no genotype-phenotype correlation. PMID: 17404776
  26. This unique case of a false negative myophosphorylase histochemical reaction is apparently related to sepsis. PMID: 17719780
  27. Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM. [REVIEW] PMID: 17915571
  28. To investigate if nonsense mediated decay affects the levels of transcripts containing PYGM mutations, 28 Spanish patients with McArdle disease, harboring 17 different mutations with premature termination codons in 77% of their alleles, were studied. PMID: 17994553
  29. Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase in McArdle disease (gycogenosis type V). PMID: 18808785
  30. Different PYGM mutations and mutant molecular mechanisms are described in patients with McArdle disease. PMID: 19251976
  31. study of two patients with atypical McArdle disease who carried common mutations on one allele (R50X and G205S), and novel splice mutations in introns 3 [IVS3-26A>G (c.425-26A>G)] and 5 [IVS5-601G>A (c.856-601G>A)] on the other allele PMID: 19433441
  32. Nine novel mutations of PYGM were identified in patients with McArdle disease. PMID: 19472443

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Involvement in disease Glycogen storage disease 5 (GSD5)
Protein Families Glycogen phosphorylase family
Database Links

HGNC: 9726

OMIM: 232600

KEGG: hsa:5837

STRING: 9606.ENSP00000164139

UniGene: Hs.154084

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