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Gene : PYGL Homo sapiens

Name  ? glycogen phosphorylase L Cytological Location  14q22.1
Brief Description  glycogen phosphorylase L
Description  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 genes that encode distinct 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, also known as 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, Feb 2011]
  • synonyms:
  • glycogen phosphorylase, liver form,
  • HGNC:9725,
  • uc001wyu.4,
  • phosphorylase, glycogen; liver,
  • Hers disease,
  • PYGL,
  • glycogen storage disease type VI,
  • GSD6,
  • NM_002863,
  • GSD6,
  • OTTHUMG00000166596
  • identifiers:
  • 5836,
  • ENSG00000100504,
  • PYGL

Genome feature

Region: gene ? Length: 39267  
Location: 14:50905217-50944483 reverse strand Cyto location: 14q22.1


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1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results