The Function of 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.
Protein names
Recommended name:
Glycogen phosphorylase, liver form- RS7142143 (PYGL) ??
- RS946616 (PYGL) ??
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Top Gene-Substance Interactions
Substances That Increase PYGL
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Substances That Decrease PYGL
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Advanced Summary
glycogen storage disease type VI At least 17 mutations in the PYGL gene have been found to cause glycogen storage disease type VI (GSDVI). Most mutations change single protein building blocks (amino acids) in liver glycogen phosphorylase, affecting the normal function of the enzyme. In the Old Order Mennonite population, a common mutation (written as 1620+1G>A) disrupts the way the PYGL gene's instructions are used to make the enzyme. A defective liver glycogen phosphorylase enzyme impairs the normal breakdown of glycogen. As a result, liver cells cannot use glycogen for energy, so liver function becomes impaired. A lack of glycogen breakdown within liver cells leads to the major features of GSDVI.
The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme breaks down a complex sugar called glycogen. Liver glycogen phosphorylase is one of three related enzymes that break down glycogen in cells; the other glycogen phosphorylases are found in the brain and in muscles. Liver glycogen phosphorylase is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Gene Pathways:
Enzyme Regulation:
Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.
Molecular Function:
- Amp Binding
- Atp Binding
- Bile Acid Binding
- Drug Binding
- Glucose Binding
- Glycogen Phosphorylase Activity
- Protein Homodimerization Activity
- Purine Nucleobase Binding
- Pyridoxal Phosphate Binding
- Vitamin Binding
Biological Processes:
- 5-Phosphoribose 1-Diphosphate Biosynthetic Process
- Glucose Homeostasis
- Glycogen Catabolic Process
- Glycogen Metabolic Process
- Necroptotic Process