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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PYGM
glycogen phosphorylase, muscle associated
Chromosome 11 Β· 11q13.1
NCBI Gene: 5837Ensembl: ENSG00000068976.15HGNC: HGNC:9726UniProt: P11217
104PubMed Papers
21Diseases
0Drugs
294Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glycogen catabolic processextracellular exosomeprotein bindingglycogen phosphorylase activityglycogen storage disease VTip-toe gaitgenetic disorderdisorder of glycogen metabolism
✦AI Summary

PYGM (glycogen phosphorylase, muscle-associated) is an allosteric enzyme that catalyzes the rate-limiting step of glycogenolysis, the phosphorolytic cleavage of glycogen to glucose-1-phosphate, playing a central role in cellular glucose homeostasis 1. The enzyme is highly expressed in skeletal muscle tissue 2 and functions broadly across tissues 3. Mechanistically, PYGM enhances glycolysis and the pentose phosphate pathway to maintain energy homeostasis 4. Beyond metabolic functions, PYGM exhibits cardioprotective effects by promoting autophagic flux and suppressing thrombospondin-1 expression during myocardial infarction 4, and functions as a metabolic regulator in tumor microenvironments by promoting M2 macrophage polarization in rectal cancer 5. Clinically, PYGM deficiency causes McArdle disease (glycogen storage disease type 5), an autosomal-recessive disorder characterized by exercise intolerance, muscle cramps, and rhabdomyolysis 16. Over 147 pathogenic mutations have been identified, with c.148C>T being most prevalent 1. Exercise-induced symptoms respond to pre-exercise carbohydrate supplementation and low-dose creatine monohydrate 6. Additionally, PYGM was identified as a possible genetic regulator of statin-induced rhabdomyolysis 7, suggesting its role in muscle vulnerability to pharmacological injury.

Sources cited
1
PYGM is the rate-limiting enzyme in glycogenolysis; enhances glycolysis and pentose phosphate pathway; protects against myocardial infarction through autophagy promotion
PMID: 40988610
2
PYGM catalyzes the first step of glycogen catabolism; McArdle disease is caused by PYGM deficiency; 147 pathogenic mutations and 39 polymorphisms identified; c.148C>T is most frequent mutation
PMID: 25914343
3
PYGM catalyzes glycogen degradation to glucose-1-phosphate; highest expression in skeletal muscle tissue; PYGM gene is conserved across mammalian genomes
PMID: 21466345
4
PYGM deficiency presents with exercise-induced cramps and rhabdomyolysis; pre-exercise carbohydrate improves symptoms; creatine monohydrate may provide mild benefit
PMID: 30397902
5
PYGM is a metabolic biomarker linked to M2 macrophage polarization in rectal cancer; upregulated in rectal cancer and promotes tumor cell proliferation and migration
PMID: 40873584
6
PYGM identified as possible genetic regulator of statin-induced rhabdomyolysis in muscle cells
PMID: 40149400
7
PYGM is highly expressed in all tissues; upregulated during skeletal muscle development; contains 842 amino acid residues
PMID: 22023431
Disease Associationsβ“˜21
glycogen storage disease VOpen Targets
0.85Strong
Tip-toe gaitOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.47Moderate
disorder of glycogen metabolismOpen Targets
0.41Moderate
Acute rhabdomyolysisOpen Targets
0.41Moderate
macular dystrophy, retinalOpen Targets
0.37Weak
hereditary skeletal muscle disorderOpen Targets
0.34Weak
goutOpen Targets
0.29Weak
rhabdomyolysisOpen Targets
0.27Weak
Abnormality of metabolism/homeostasisOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.25Weak
Disorder of carbohydrate metabolismOpen Targets
0.24Weak
carbohydrate metabolism diseaseOpen Targets
0.19Weak
Elevated circulating creatine kinase concentrationOpen Targets
0.15Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.14Weak
myopathyOpen Targets
0.11Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
glycogen storage disease IXdOpen Targets
0.06Suggestive
Glycogen storage disease 5UniProt
Pathogenic Variants294
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)Pathogenic
Glycogen storage disease, type V|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 576
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)Pathogenic
Glycogen storage disease, type V|not provided|Inborn genetic diseases|Tip-toe gait|Hereditary skeletal muscle disorder|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 50
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)Pathogenic
Glycogen storage disease, type V|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 205
NM_005609.4(PYGM):c.2178-1G>APathogenic
not provided|Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.2379+2_2379+3delinsATPathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.2177+1G>ALikely pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.1969+1G>ALikely pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.2262del (p.Lys754fs)Pathogenic
not provided|Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026β†’ Residue 754
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)Pathogenic
Glycogen storage disease, type V|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 798
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)Pathogenic
Glycogen storage disease, type V|not provided|Acute rhabdomyolysis
β˜…β˜…β˜†β˜†2026β†’ Residue 270
NM_005609.4(PYGM):c.425-26A>GPathogenic
McArdle disease, mild|Glycogen storage disease, type V|not provided
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)Pathogenic
Glycogen storage disease, type V|not provided|Tip-toe gait
β˜…β˜…β˜†β˜†2026β†’ Residue 397
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)Pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026β†’ Residue 116
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)Pathogenic
Glycogen storage disease, type V|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 602
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)Pathogenic
Glycogen storage disease, type V|not provided|PYGM-related disorder|Tip-toe gait
β˜…β˜…β˜†β˜†2026β†’ Residue 686
NM_005609.4(PYGM):c.1768+2T>GPathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026
NM_005609.4(PYGM):c.1507del (p.Val503fs)Pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2026β†’ Residue 503
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)Pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2025β†’ Residue 798
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)Pathogenic
Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_005609.4(PYGM):c.1768+1G>APathogenic
not provided|Inborn genetic diseases|Glycogen storage disease, type V
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
UGP2Protein interaction99%AMY2BProtein interaction97%AMY1BProtein interaction97%AMY2AProtein interaction97%MGAMProtein interaction97%RIPK3Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
55%
Lung
11%
Ovary
6%
Liver
3%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
PYGMUGP2AMY2BAMY1BAMY2AMGAMRIPK3
PROTEIN STRUCTURE
Preparing viewer…
PDB1Z8D Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.67–0.96]
RankingsWhere PYGM stands among ~20K protein-coding genes
  • #4,609of 20,598
    Most Researched104 Β· top quartile
  • #212of 5,498
    Most Pathogenic Variants294 Β· top 5%
  • #9,075of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedPYGM
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PYGM Protects Against Myocardial Infarction by Enhancing Glycogenolysis and Facilitating Autophagic Flux.
PMID: 40988610
Circulation Β· 2025
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
PMID: 25914343
Hum Mutat Β· 2015
0.80
4
Genomic structure and expression analyses of the PYGM gene in the thoroughbred horse.
PMID: 21466345
Zoolog Sci Β· 2011
0.70
5
Myopathies Related to Glycogen Metabolism Disorders.
PMID: 30397902
Neurotherapeutics Β· 2018
0.60