PYGL

GENE INFORMATION

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Gene name

PYGL

Synonyms

Description

Phosphorylase, glycogen, liver (HGNC Symbol)

Entrez 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 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]

Chromosome

14

Cytoband

q22.1

Chromosome location (bp)

50857891 - 50944736

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100504 (version 78.38)

Entrez gene

5836

UniProt

P06737 (UniProt - Evidence at protein level)

neXtProt

NX_P06737

Antibodypedia

PYGL antibodies
 

PROTEIN VIEW

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PYGL-001
 
PYGL-002
 
PYGL-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PYGL-001 ENSP00000216392
ENST00000216392
P06737
Show all »
Show » Show » 847 97.1 No 0
PYGL-002 ENSP00000443787
ENST00000544180
P06737
Show all »
Show » Show » 813 93.1 No 0
PYGL-003 ENSP00000431657
ENST00000532462
E9PK47
Show all »
Show » Show » 819 94.1 No 0