PYGL Glycogen Phosphorylase L
Liver Glycogen Phosphorylase Gene
Gene Information Card
| Symbol | PYGL |
|---|---|
| Full Name | Glycogen Phosphorylase L |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 5836 ncbi.nlm.nih.gov/gene/5836 |
| Ensembl ID | ENSG00000100504 |
| UniProt ID | P06737 |
| OMIM ID | 232700 |
| HGNC ID | 9725 |
| Aliases | GPLL, GSD6, PYGL, phosphorylase, glycogen, liver |
Description
The PYGL gene encodes the liver isoform of glycogen phosphorylase, which catalyzes the rate-limiting step in glycogenolysis, cleaving glycogen to glucose-1-phosphate. This enzyme is essential for maintaining blood glucose homeostasis during fasting. Mutations in PYGL cause glycogen storage disease type VI (Hers disease), characterized by hepatomegaly, hypoglycemia, and growth retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease VI (Hers disease) | Loss-of-function mutations in PYGL reduce liver glycogen phosphorylase activity, impairing glycogen breakdown and leading to glycogen accumulation in the liver. | ClinVar, OMIM |
| Glycogen storage disease with mild phenotype | Partial deficiency of PYGL activity due to specific missense variants results in milder metabolic symptoms. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 37.2 | High |
| Kidney | 6.8 | Low |
| Small intestine | 4.5 | Low |
| Skeletal muscle | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 42.1 | Liver cancer cell line, high expression |
| HEK293 | 1.2 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1620C>A (p.Tyr540*) | Nonsense | Rare | Loss of function, truncation |
| c.1465C>T (p.Arg489Trp) | Missense | Common in GSD VI | Reduced enzyme activity |
| c.1843G>A (p.Gly615Arg) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Most PYGL mutations are loss-of-function, reducing or abolishing glycogen phosphorylase activity, leading to glycogen storage disease VI.
Gain of Function (GOF)
No gain-of-function mutations reported in PYGL.
Dominant Negative (DN)
No dominant-negative mutations reported; PYGL deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • glycogen phosphorylase activity | • glycogen catabolic process |
| • response to glucose | • cytoplasm |
| • pyridoxal phosphate binding |
Pathways
• Glycogenolysis
• Metabolism of carbohydrates
• Glucose homeostasis
Protein Summary
The PYGL protein (liver glycogen phosphorylase) is a homodimer of 847 amino acids. It requires pyridoxal phosphate as a cofactor and is activated by phosphorylation via phosphorylase kinase. The enzyme releases glucose-1-phosphate from glycogen, which is then converted to glucose-6-phosphate for systemic glucose supply. Deficiency leads to glycogen accumulation in the liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYGL Knockout HEK293 Cell Line | EDJ-KQ5618 | Human | 5836 | Details Get a Quote |
| PYGL Knockout A-549 Cell Line | EDJ-KQ28919 | Human | 5836 | Details Get a Quote |
| PYGL Knockout HCT 116 Cell Line | EDJ-KQ28920 | Human | 5836 | Details Get a Quote |
| PYGL Knockout HeLa Cell Line | EDJ-KQ28921 | Human | 5836 | Details Get a Quote |
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