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GeneE
26 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.
PFKM
phosphofructokinase, muscle
Chromosome 12 Β· 12q13.11
NCBI Gene: 5213Ensembl: ENSG00000152556.17HGNC: HGNC:8877UniProt: A0A024R0Y5
173PubMed Papers
21Diseases
0Drugs
134Pathogenic Variants
FUNCTIONAL ROLE
Kinase
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
6-phosphofructokinase activityprotein bindingATP bindingfructose bindingglycogen storage disease VIIdisorder of glycogen metabolismanemia (phenotype)Peroxisome biogenesis disorder-Zellweger syndrome spectrum
✦AI Summary

PFKM (phosphofructokinase, muscle) catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate, representing the first committed step of glycolysis 1. As the muscle isoform of phosphofructokinase-1, PFKM is a rate-limiting enzyme in glucose metabolism 2. PFKM expression is transcriptionally regulated by metabolic and oncogenic pathways. The transcription factor ZEB1 directly activates PFKM transcription through a non-classic binding sequence in its promoter, enhancing glycolytic flux and promoting the Warburg effect in hepatocellular carcinoma 2. PFKM mRNA stability is regulated by the m6A reader protein YTHDC1 in an m6A-methylation-dependent manner 3. Additionally, the pre-mRNA splicing factor LUC7L2 regulates PFKM splicing to modulate glycolytic pathway activity 4. Clinically, PFKM deficiency causes glycogen storage disease VII, characterized by muscle weakness from impaired energy metabolism during exercise 1. PFKM activity is dynamically regulated during viral infection: ARRDC4-mediated activation of PFKM increases fructose-1,6-bisphosphate production, enhancing antiviral innate immunity 5. Genetic variants in PFKM are associated with cryptorchidism susceptibility 6. PFKM is selectively activated by glycolytic modulators in contrast to the structurally similar PFKL isoform expressed in immune cells 7.

Sources cited
1
PFKM is a rate-limiting glycolytic enzyme; ZEB1 transcriptionally upregulates PFKM to promote Warburg effect and HCC metastasis
PMID: 33897890
2
PFKM is the muscle isoform of phosphofructokinase; deficiency causes muscle weakness and glycogen storage disease
PMID: 7602786
3
LUC7L2 regulates PFKM splicing to promote glycolysis and suppress OXPHOS
PMID: 33852893
4
YTHDC1 recognizes m6A methylation on PFKM mRNA to regulate its stability and glycolytic pathway activity
PMID: 38233839
5
ARRDC4 activates PFKM to increase fructose-1,6-bisphosphate production and enhance antiviral innate immunity
PMID: 40875808
6
PFKM gene polymorphisms (rs2228500) are associated with cryptorchidism susceptibility
PMID: 35838787
7
PFKM is structurally distinct from PFKL and not activated by PFKL-selective agonists
PMID: 34320407
Disease Associationsβ“˜21
glycogen storage disease VIIOpen Targets
0.82Strong
disorder of glycogen metabolismOpen Targets
0.34Weak
anemia (phenotype)Open Targets
0.34Weak
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
partial epilepsyOpen Targets
0.28Weak
rhabdomyolysisOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
smoking initiationOpen Targets
0.12Weak
breast cancerOpen Targets
0.10Suggestive
MODYOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.08Suggestive
SepsisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
Glycogen storage disease 7UniProt
Pathogenic Variants134
NM_000289.6(PFKM):c.2003del (p.Pro668fs)Pathogenic
Glycogen storage disease, type VII|Glycogen storage disease|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 668
NM_000289.6(PFKM):c.1500+1G>APathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2026
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2026β†’ Residue 95
NM_000289.6(PFKM):c.237+1G>APathogenic
Glycogen storage disease, type VII|Rhabdomyolysis|not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2026
NM_000289.6(PFKM):c.936+2T>GLikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)Pathogenic
Glycogen storage disease, type VII|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 246
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 376
NM_000289.6(PFKM):c.1876_1880+2delLikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 432
NM_000289.6(PFKM):c.1413-2A>GPathogenic
not provided|Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)Pathogenic
not provided|Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_000289.6(PFKM):c.874del (p.Arg292fs)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 292
NM_000289.6(PFKM):c.1412+2T>CLikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_000289.6(PFKM):c.1191+1G>ALikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.159+1G>TLikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2025β†’ Residue 98
NM_000289.6(PFKM):c.238-3A>GLikely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2024
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)Likely pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2024β†’ Residue 209
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)Pathogenic
Glycogen storage disease, type VII
β˜…β˜…β˜†β˜†2024β†’ Residue 129
View on ClinVar β†—
Related Genes
GAPDHProtein interaction100%TALDO1Protein interaction99%TKTProtein interaction98%FBP1Protein interaction98%MPIProtein interaction98%PFKFB1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Ovary
18%
Brain
16%
Lung
7%
Bone Marrow
2%
Liver
2%
Gene Interaction Network
Click a node to explore
PFKMGAPDHTALDO1TKTFBP1MPIPFKFB1
PROTEIN STRUCTURE
Preparing viewer…
PDB4OMT Β· 6.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.48–0.77]
RankingsWhere PFKM stands among ~20K protein-coding genes
  • #2,552of 20,598
    Most Researched173 Β· top quartile
  • #574of 5,498
    Most Pathogenic Variants134 Β· top quartile
  • #6,286of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedPFKM
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
ZEB1 enhances Warburg effect to facilitate tumorigenesis and metastasis of HCC by transcriptionally activating PFKM.
PMID: 33897890
Theranostics Β· 2021
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
Selective activation of PFKL suppresses the phagocytic oxidative burst.
PMID: 34320407
Cell Β· 2021
0.80
4
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
PMID: 33852893
Mol Cell Β· 2021
0.70
5
Chloroquine Suppresses Colorectal Cancer Progression via Targeting CHKA and PFKM to inhibit the PI3K/AKT Pathway and the Warburg Effect.
PMID: 39990656
Int J Biol Sci Β· 2025
0.68