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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PYGL
glycogen phosphorylase L
Chromosome 14 Β· 14q22.1
NCBI Gene: 5836Ensembl: ENSG00000100504.18HGNC: HGNC:9725UniProt: P06737
121PubMed Papers
21Diseases
0Drugs
74Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
purine nucleobase bindingD-glucose bindingglycogen phosphorylase activityAMP bindingglycogen storage disease VIdisorder of glycogen metabolismGlycogen storage disease due to glycogenin deficiencycolorectal cancer
✦AI Summary

PYGL (glycogen phosphorylase L) is an allosteric enzyme that catalyzes the phosphorolytic cleavage of glycogen to glucose-1-phosphate, serving as the rate-limiting step in glycogen catabolism and playing a central role in glucose homeostasis 1. As the hepatic glycogen phosphorylase enzyme, PYGL deficiency causes glycogen storage disease type VI, characterized by hepatomegaly, ketotic hypoglycemia, and impaired growth 1. Beyond its canonical metabolic role, PYGL functions as an oncogenic driver across multiple cancer types. In pancreatic cancer, hypoxia-induced PYGL promotes epithelial-mesenchymal transition and metastasis by mobilizing glycogen to fuel glycolysis 2. In liver cancer, PYGL deficiency leads to glycogen accumulation that undergoes phase separation, sequestering Hippo kinases to promote tumorigenesis 3. In head and neck squamous cell carcinoma, PYGL serves as a critical metabolic biomarker associated with poor prognosis, enhanced metastasis, and chemotherapy resistance through GSH/ROS/p53 pathway dysregulation 45. PYGL also regulates lactate metabolism and suppresses M1 macrophage polarization, reducing anti-tumor immunity 5. Importantly, neurons utilize PYGL-mediated glycogen catabolism for glycolytic plasticity under mitochondrial dysfunction and hypoxia, supporting synaptic function 6. Clinically, PYGL represents both a prognostic biomarker in glioma 7 and acute myocardial infarction 8, and an emerging therapeutic target for metabolically driven cancers.

Sources cited
1
PYGL encodes hepatic glycogen phosphorylase; PYGL deficiency causes glycogen storage disease type VI with hepatomegaly and metabolic complications
PMID: 30659246
2
Hypoxia-induced PYGL expression promotes epithelial-mesenchymal transition and pancreatic cancer metastasis by mobilizing glycogen for glycolysis
PMID: 37063425
3
PYGL deficiency results in glycogen accumulation that undergoes phase separation to sequester Hippo kinases, promoting liver tumorigenesis
PMID: 34678143
4
PYGL is a metabolism-related oncogenic biomarker promoting HNSCC progression, metastasis, and chemotherapy resistance through GSH/ROS/p53 pathway
PMID: 37420300
5
PYGL regulates lactate metabolism and macrophage polarization, affecting immune infiltration and immunotherapy efficacy in HNSCC
PMID: 40275154
6
Neuronal PYGL-1 enables glycogen-dependent glycolytic plasticity under mitochondrial dysfunction and hypoxia to support synaptic function
PMID: 40638090
7
PYGL serves as a prognostic biomarker and molecular target for glioma evaluation and immunotherapy
PMID: 35037470
8
PYGL is identified as a lactylation-related gene significantly expressed in acute myocardial infarction
PMID: 39521235
Disease Associationsβ“˜21
glycogen storage disease VIOpen Targets
0.82Strong
disorder of glycogen metabolismOpen Targets
0.63Moderate
Glycogen storage disease due to glycogenin deficiencyOpen Targets
0.60Moderate
colorectal cancerOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.37Weak
acute lymphoblastic leukemiaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
rectum cancerOpen Targets
0.17Weak
cleft lipOpen Targets
0.10Suggestive
gliomaOpen Targets
0.10Suggestive
head and neck squamous cell carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.07Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.06Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.05Suggestive
carnitine palmitoyl transferase II deficiency, severe infantile formOpen Targets
0.05Suggestive
Glycogen storage disease 6UniProt
Pathogenic Variants74
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)Pathogenic
Glycogen storage disease, type VI|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 577
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)Likely pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2025β†’ Residue 445
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)Pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2025β†’ Residue 809
NM_002863.5(PYGL):c.1768+1G>APathogenic
Glycogen storage disease, type VI|not provided|Uterine corpus endometrial carcinoma|Uveal melanoma
β˜…β˜…β˜†β˜†2025
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)Pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2025β†’ Residue 691
NM_002863.5(PYGL):c.1620+1G>APathogenic
Glycogen storage disease, type VI|Thyroid cancer, nonmedullary, 1|Acute myeloid leukemia
β˜…β˜…β˜†β˜†2025
NM_002863.5(PYGL):c.1620+1G>CPathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2024
NM_002863.5(PYGL):c.1366G>A (p.Val456Met)Pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2024β†’ Residue 456
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)Pathogenic
Glycogen storage disease, type VI|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 492
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAAPathogenic
Glycogen storage disease, type VI|PYGL-related disorder
β˜…β˜…β˜†β˜†2024
NM_002863.5(PYGL):c.772+1G>APathogenic
Glycogen storage disease, type VI|not provided
β˜…β˜…β˜†β˜†2024
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)Pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2024β†’ Residue 94
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)Pathogenic
not provided|Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2023β†’ Residue 649
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)Pathogenic
Glycogen storage disease, type VI
β˜…β˜…β˜†β˜†2023β†’ Residue 305
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs)Pathogenic
Glycogen storage disease, type VI|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 15
NM_002863.5(PYGL):c.217C>T (p.Gln73Ter)Pathogenic
Glycogen storage disease, type VI
β˜…β˜†β˜†β˜†2025β†’ Residue 73
NM_002863.5(PYGL):c.243+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)Pathogenic
Glycogen storage disease, type VI
β˜…β˜†β˜†β˜†2025β†’ Residue 233
NM_002863.5(PYGL):c.324del (p.Cys109fs)Pathogenic
Glycogen storage disease, type VI
β˜…β˜†β˜†β˜†2024β†’ Residue 109
NM_002863.5(PYGL):c.808C>T (p.Arg270Ter)Pathogenic
Glycogen storage disease, type VI
β˜…β˜†β˜†β˜†2024β†’ Residue 270
View on ClinVar β†—
Related Genes
UGP2Protein interaction99%MGAMProtein interaction97%RIPK3Protein interaction96%AMY1BProtein interaction96%AMY2AProtein interaction96%AMY2BProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
92%
Lung
39%
Ovary
22%
Brain
7%
Heart
7%
Gene Interaction Network
Click a node to explore
PYGLUGP2MGAMRIPK3AMY1BAMY2AAMY2B
PROTEIN STRUCTURE
Preparing viewer…
PDB3DDS Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.74–1.05]
RankingsWhere PYGL stands among ~20K protein-coding genes
  • #3,895of 20,598
    Most Researched121 Β· top quartile
  • #994of 5,498
    Most Pathogenic Variants74 Β· top quartile
  • #10,467of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedPYGL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Glycogen accumulation and phase separation drives liver tumor initiation.
PMID: 34678143
Cell Β· 2021
1.00
2
Identification of a lactylation-related gene signature as the novel biomarkers for early diagnosis of acute myocardial infarction.
PMID: 39521235
Int J Biol Macromol Β· 2024
0.90
3
PYGL-mediated glucose metabolism reprogramming promotes EMT phenotype and metastasis of pancreatic cancer.
PMID: 37063425
Int J Biol Sci Β· 2023
0.80
4
Identification of
PMID: 35037470
Future Oncol Β· 2022
0.70
5
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
PMID: 30659246
Genet Med Β· 2019
0.60