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PYGM phosphorylase, glycogen, muscle

Summary

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]

Genomic context

Location:
11q12-q13.2
Sequence:
Chromosome: 11; NC_000011.10 (64746389..64760715, complement)
Total number of exons:
20

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • PYGM database
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SNP: VarView
    Related Clinical SNP

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