Property Summary

NCBI Gene PubMed Count 63
PubMed Score 154.43
PubTator Score 299.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 1.400 7.4e-05
glioblastoma -1.800 9.5e-05
sonic hedgehog group medulloblastoma -2.600 8.2e-09
atypical teratoid/rhabdoid tumor -2.300 9.2e-10
medulloblastoma, large-cell -2.000 1.3e-05
primitive neuroectodermal tumor -2.400 2.4e-06
colon cancer -1.700 2.3e-03
pediatric high grade glioma -2.200 5.4e-09
pilocytic astrocytoma -2.200 4.6e-09
posterior fossa group B ependymoma 1.500 1.1e-04
subependymal giant cell astrocytoma -1.925 8.6e-03
ductal carcinoma in situ -1.300 1.9e-03
invasive ductal carcinoma -1.400 1.1e-02
psoriasis -1.500 3.8e-60

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (30)

PMID Text
25914343 update of the reported mutations and polymorphisms in the PYGM gene [review]
25694429 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
25240406 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
23653251 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.
22608882 a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region
22337875 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.
21880526 The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease
21802952 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.
21658951 This study demonistrated that PYGM mutation in McArdle disease.
20957198 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
19472443 Nine novel mutations of PYGM were identified in patients with McArdle disease.
19433441 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
19251976 Different PYGM mutations and mutant molecular mechanisms are described in patients with McArdle disease.
18808785 Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase in McArdle disease (gycogenosis type V).
17994553 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.
17915571 Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM. [REVIEW]
17719780 This unique case of a false negative myophosphorylase histochemical reaction is apparently related to sepsis.
17630210 Observational study of gene-disease association. (HuGE Navigator)
17404776 The study further extends the genetic heterogeneity of myophosphorylase gene mutations showing no mutational hotspot and no genotype-phenotype correlation.
17324573 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
16786513 19 novel mutations within the PYGM gene are associated with McArdle disease.
16671104 Observational study of gene-disease association. (HuGE Navigator)
16523484 muscle isoform of human glycogen phosphorylase has structural differences that are consistent with the long-known kinetic differences between the liver and muscle enzymes
16154688 We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P).
15979037 A new autosomal dominant gene mutation in McArdle disease.
14662163 the muscle subtype of glycogen phosphorylase mRNA level is up-regulated in preeclampsia in placenta
12640006 In Mcardle's disease (deficiency of this enzyme) efferent muscle sympathetic nerve activity (MSNA) is attenuated.
12398832 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.
12031624 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
11749054 McArdle disease may be caused by a R269X nonsense mutation in this gene.

AA Sequence

MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDRNVATPRDYYFALAHTVRDHLVGRWIR      1 - 70
TQQHYYEKDPKRIYYLSLEFYMGRTLQNTMVNLALENACDEATYQLGLDMEELEEIEEDAGLGNGGLGRL     71 - 140
AACFLDSMATLGLAAYGYGIRYEFGIFNQKISGGWQMEEADDWLRYGNPWEKARPEFTLPVHFYGHVEHT    141 - 210
SQGAKWVDTQVVLAMPYDTPVPGYRNNVVNTMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENISRVL    211 - 280
YPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKVAIQLNDTHPSLAIPEL    281 - 350
MRILVDLERMDWDKAWDVTVRTCAYTNHTVLPEALERWPVHLLETLLPRHLQIIYEINQRFLNRVAAAFP    351 - 420
GDVDRLRRMSLVEEGAVKRINMAHLCIAGSHAVNGVARIHSEILKKTIFKDFYELEPHKFQNKTNGITPR    421 - 490
RWLVLCNPGLAEVIAERIGEDFISDLDQLRKLLSFVDDEAFIRDVAKVKQENKLKFAAYLEREYKVHINP    491 - 560
NSLFDIQVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFVPRTVMIGGKAAPGYHMAKMIIRLVTAIGDV    561 - 630
VNHDPAVGDRLRVIFLENYRVSLAEKVIPAADLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEM    631 - 700
AEEAGEENFFIFGMRVEDVDKLDQRGYNAQEYYDRIPELRQVIEQLSSGFFSPKQPDLFKDIVNMLMHHD    701 - 770
RFKVFADYEDYIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDE    771 - 840
AI                                                                        841 - 842
//

Text Mined References (63)

PMID Year Title
25914343 2015 McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
25694429 2015 Guanine nucleotide exchange factor ?PIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells.
25416956 2014 A proteome-scale map of the human interactome network.
25240406 2014 PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
23653251 2013 Clinical and molecular characterization of McArdle's disease in Brazilian patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22608882 2012 McArdle disease: a novel mutation in Jewish families from the Caucasus region.
22337875 2012 Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation.
21880526 2011 Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
21802952 2011 Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
21658951 2011 Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).
20957198 2010 Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.
19472443 2009 High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
19433441 2009 Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
19251976 2009 Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
18808785 2008 [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
17994553 2008 Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
17915571 2007 McArdle disease: molecular genetic update.
17719780 2007 False negative histochemical reaction for myophosphorylase activity in fulminant sepsis due to methicillin resistant Staphylococcus aureus.
17630210 2007 Genotype modulators of clinical severity in McArdle disease.
17404776 2007 Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17324573 2007 Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
16786513 2006 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
16671104 2006 Genetic risk factors associated with lipid-lowering drug-induced myopathies.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16523484 2006 The crystal structure of human muscle glycogen phosphorylase a with bound glucose and AMP: an intermediate conformation with T-state and R-state features.
16154688 2005 Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
16083285 Global phosphoproteome of HT-29 human colon adenocarcinoma cells.
15979037 2005 A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14662163 2003 cDNA microarray analysis of gene expression profiles in human placenta: up-regulation of the transcript encoding muscle subunit of glycogen phosphorylase in preeclampsia.
12804600 2003 Ca2+ -dependent interaction of S100A1 with the sarcoplasmic reticulum Ca2+ -ATPase2a and phospholamban in the human heart.
12640006 2003 Reflex sympathetic activation during static exercise is severely impaired in patients with myophosphorylase deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12398832 2002 Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
12031624 2002 Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
11706962 2001 Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.
11168025 2001 Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.
10899452 2000 A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
10714589 2000 A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.
10681080 2000 A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
10590419 2000 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
10417800 1999 A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
10382912 1999 McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
10382911 1999 A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
9633816 1998 Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
9506549 1998 Mutation analysis in myophosphorylase deficiency (McArdle's disease).
8535454 1995 Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
8316268 1993 Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
7958997 1994 Regulation of the rat muscle glycogen phosphorylase-encoding gene during muscle cell development.
7744850 1995 Interaction between glycogen phosphorylase and sarcoplasmic reticulum membranes and its functional implications.
7603523 1995 The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
6797345 1981 Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). Use of new protein mapping and immunological techniques.
3840433 1985 Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs.
3466902 1987 Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
3447177 1987 Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase.
2703328 1989 McArdle disease in a Druze family.
2461546 1988 Isolation and mapping of a polymorphic DNA sequence for human muscle glycogen phosphorylase (pMCMP1) on chromosome II [PYGM].
1701414 1990 Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence.
1150650 1975 Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties.