PFKP: Platelet-Type Phosphofructokinase
Key regulator of glycolysis in platelets and muscle
Gene Information Card
| Symbol | PFKP |
|---|---|
| Full Name | Phosphofructokinase, Platelet |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.2 |
| NCBI Gene ID | 5214 ncbi.nlm.nih.gov/gene/5214 |
| Ensembl ID | ENSG00000167057 |
| UniProt ID | Q01813 |
| OMIM ID | 171840 |
| HGNC ID | 8876 |
| Aliases | PFK-P, PFK-1, PFK1, 6-phosphofructokinase type C |
Description
PFKP encodes the platelet-type isozyme of phosphofructokinase (PFK-1), a key regulatory enzyme in glycolysis that catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. This isozyme is predominantly expressed in platelets, fibroblasts, and certain muscle tissues. Mutations in PFKP are associated with glycogen storage disease type VII (Tarui disease) and hemolytic anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type VII (Tarui disease) | Deficiency of PFKP leads to impaired glycolysis in muscle and red blood cells, causing exercise intolerance, myopathy, and hemolytic anemia. | OMIM #232800 |
| Hemolytic anemia, nonspherocytic, due to PFKP deficiency | Reduced PFKP activity in erythrocytes results in decreased ATP production and premature red cell destruction. | ClinVar; PMID: 2148086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Platelets | 12.3 | High |
| Skeletal muscle | 8.7 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.5 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.4 | High expression |
| K562 | 7.8 | Moderate expression |
| HeLa | 5.2 | Low expression |
| HepG2 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Reduced enzyme activity; associated with Tarui disease |
| c.548T>C (p.Leu183Pro) | Missense | <0.01% | Loss of function; hemolytic anemia |
| c.1123delC | Frameshift | <0.01% | Premature truncation; severe PFKP deficiency |
Mutation functional classification
Loss of Function (LOF)
Most PFKP mutations result in loss of enzyme activity, leading to metabolic myopathy and hemolytic anemia.
Gain of Function (GOF)
No gain-of-function mutations reported in PFKP.
Dominant Negative (DN)
No dominant-negative mutations described; PFKP deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 6-phosphofructokinase activity | • ATP binding |
| • glycolytic process | • fructose 6-phosphate metabolic process |
| • platelet aggregation |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Fructose and mannose metabolism (KEGG: hsa00051)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PFKP encodes the platelet-type subunit of phosphofructokinase-1, a tetrameric enzyme that controls the rate-limiting step of glycolysis. The protein is composed of 784 amino acids and forms homotetramers or heterotetramers with other PFK isoforms. It is allosterically regulated by ATP, AMP, and fructose-2,6-bisphosphate. Defects in PFKP cause glycogen storage disease type VII (Tarui disease) and hemolytic anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFKP Knockout HEK293 Cell Line | EDJ-KQ1510 | Human | 5214 | Details Get a Quote |
| PFKP Knockout A-549 Cell Line | EDJ-KQ21134 | Human | 5214 | Details Get a Quote |
| PFKP Knockout HCT 116 Cell Line | EDJ-KQ21135 | Human | 5214 | Details Get a Quote |
| PFKP Knockout HeLa Cell Line | EDJ-KQ21136 | Human | 5214 | Details Get a Quote |
| PFKP Knockout MHCC97-H Cell Line | EDC90218 | Human | 5214 | Details Get a Quote |
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