Recombinant Human Glycogen phosphorylase, liver form (PYGL), Truncated

Uniprot Id

P06737

Target Species

Human

Target Name

PYGL

Target Full Name

Glycogen phosphorylase, liver form

Target Function

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.

Target Involvement

Glycogen storage disease 6 (GSD6)

Target Subcellular Location

Cytoplasm, cytosol.

Target Protein Families

Glycogen phosphorylase family

Target Research Area

Metabolism

Target Synonyms

Glycogen phosphorylase; Glycogen phosphorylase L; Glycogen phosphorylase liver; Glycogen phosphorylase liver form; GSD6; Hers disease; glycogen storage disease type VI; liver form; OTTHUMP00000233649; OTTHUMP00000233651; Phosphorylase glycogen liver; Pygl; PYGL_HUMAN

Target Background

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.