Description: Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA. RefSeq Summary (NM_005609): This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. Transcript (Including UTRs) Position: hg19 chr11:64,513,861-64,528,187 Size: 14,327 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr11:64,514,131-64,527,370 Size: 13,240 Coding Exon Count: 20
ID:PYGM_HUMAN DESCRIPTION: RecName: Full=Glycogen phosphorylase, muscle form; EC=2.4.1.1; AltName: Full=Myophosphorylase; 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. CATALYTIC ACTIVITY: (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. COFACTOR: Pyridoxal phosphate. ENZYME REGULATION: Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. SUBUNIT: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. PTM: Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. DISEASE: Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5) [MIM:232600]; also known as McArdle disease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. SIMILARITY: Belongs to the glycogen phosphorylase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGM";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PYGM CDC HuGE Published Literature: PYGM Positive Disease Associations: Gout
, McArdle disease Related Studies:
Gout Adrienne Tin et al. Human molecular genetics 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., Human molecular genetics.
[PubMed 21768215]
, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele.
McArdle disease Iyengar S et al. 1997, Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease., Journal of medical genetics. 1997 May;34(5):391-4.
[PubMed 9152836]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11217
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0005977 glycogen metabolic process GO:0005980 glycogen catabolic process GO:0008152 metabolic process
US Server
