PFKM Gene - Phosphofructokinase, Muscle
Comprehensive gene card for PFKM, encoding the muscle-specific isoform of phosphofructokinase, a key glycolytic enzyme.
Gene Information Card
| Symbol | PFKM |
|---|---|
| Full Name | Phosphofructokinase, Muscle |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 5213 ncbi.nlm.nih.gov/gene/5213 |
| Ensembl ID | ENSG00000152556 |
| UniProt ID | P08237 |
| OMIM ID | 610681 |
| HGNC ID | 8876 |
| Aliases | PFK-1, PFK1, PFKX, GSD7 |
Description
The PFKM gene encodes the muscle-specific isoform of phosphofructokinase-1 (PFK-1), a rate-limiting enzyme in glycolysis that catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Mutations in PFKM cause Glycogen Storage Disease Type VII (Tarui disease), characterized by exercise intolerance, myopathy, and hemolytic anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen Storage Disease Type VII (Tarui disease) | Loss-of-function mutations in PFKM impair glycolysis in muscle and erythrocytes, leading to glycogen accumulation and energy deficiency. | ClinVar, OMIM |
| Hemolytic anemia | Deficient PFK activity in red blood cells reduces ATP production, causing shortened erythrocyte lifespan and hemolysis. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 22.1 | Medium |
| Brain | 8.5 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 45.6 | Muscle-derived cell line |
| HepG2 (hepatocellular carcinoma) | 3.1 | Low expression |
| K-562 (leukemia) | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | Unknown | Premature stop, loss of function |
| c.548G>A (p.Arg183Gln) | Missense | Unknown | Reduced enzyme activity |
| c.1127delA (p.Asn376Ilefs*13) | Frameshift | Unknown | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PFKM mutations lead to loss of enzyme activity, causing Glycogen Storage Disease Type VII.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycolysis (Reactome: R-HSA-70171)
• Gluconeogenesis (Reactome: R-HSA-70263)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
PFKM is a 780-amino acid protein that forms a homotetramer or heterotetramer with other PFK isoforms. It catalyzes the irreversible phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate, a key regulatory step in glycolysis. The muscle isoform is allosterically regulated by ATP, AMP, and fructose-2,6-bisphosphate. Deficiency leads to impaired muscle energy production and hemolytic anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFKM Knockout HEK293 Cell Line | EDJ-KQ1509 | Human | 5213 | Details Get a Quote |
| PFKM Knockout A-549 Cell Line | EDJ-KQ21131 | Human | 5213 | Details Get a Quote |
| PFKM Knockout HCT 116 Cell Line | EDJ-KQ21132 | Human | 5213 | Details Get a Quote |
| PFKM Knockout HeLa Cell Line | EDJ-KQ21133 | Human | 5213 | Details Get a Quote |
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