PFKL
Description
The PFKL (phosphofructokinase, liver type) is a protein-coding gene located on chromosome 21.
The PFKL gene encodes the liver isoform of phosphofructokinase-1, an enzyme crucial for glucose metabolism. This enzyme catalyzes the conversion of fructose 6-phosphate to fructose 1,6-bisphosphate, a key step in glycolysis. PFKL forms a tetramer with other subunits, and its composition varies depending on the tissue. The gene contains a coding region of 2,337 nucleotides encoding 779 amino acids, sharing only 68% similarity with the muscle-type PFKM. The N-terminal of PFKL is responsible for its catalytic activity, while the C-terminal contains sites for allosteric ligand binding.
PFKL catalyzes the conversion of fructose 6-phosphate to fructose 1,6-bisphosphate using ATP, a crucial step in glycolysis. It also plays a role in regulating the phagocyte oxidative burst during bacterial infections by controlling NADPH production and reactive oxygen species. Upon macrophage activation, it shifts metabolism towards glycolysis, preventing glucose turnover that generates NADPH via the pentose phosphate pathway.
PFKL is also known as ATP-PFK, PFK-B, PFK-L.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- type 1 diabetes mellitus
- endometrial cancer
- anorectal malformation
