Gene

PYGM

Species
Homo sapiens
Symbol
PYGM
Name
glycogen phosphorylase, muscle associated
Synonyms
  • glycogen phosphorylase, muscle form
  • GSD5
Biotype
protein coding gene
Automated Description
Enables glycogen phosphorylase activity. Involved in glycogen catabolic process. Located in extracellular exosome. Implicated in glycogen storage disease V.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11468
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
64.748M64.750M64.752M64.754M64.756M64.758M64.760M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions