Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

PYGL

Gene Alias

GSD6

Gene Description

phosphorylase, glycogen, liver

Omim ID

Gene Ontology

Gene Summary

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, or Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq

Other Designations

Hers disease|glycogen phosphorylase, liver|glycogen storage disease type VI|phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)