Glycogen Phosphorylase (PYGL) Antibody – Rabbit Polyclonal

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]

PYGL: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. Defects in PYGL are the cause of glycogen storage disease type 6 (GSD6). A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. Belongs to the glycogen phosphorylase family.

Protein type: Transferase; Carbohydrate Metabolism - starch and sucrose; EC 2.4.1.1

Chromosomal Location of Human Ortholog: 14q21-q22

Cellular Component: cytoplasm; cytosol; plasma membrane

Molecular Function: AMP binding; ATP binding; bile acid binding; drug binding; glucose binding; glycogen phosphorylase activity; protein binding; protein homodimerization activity; purine binding; pyridoxal phosphate binding; vitamin binding

Biological Process: 5-phosphoribose 1-diphosphate biosynthetic process; carbohydrate metabolic process; glucose homeostasis; glucose metabolic process; glycogen catabolic process; glycogen metabolic process

Disease: Glycogen Storage Disease Vi