Aliases for PFKL Gene
External Ids for PFKL Gene
Previous GeneCards Identifiers for PFKL Gene
This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
GeneCards Summary for PFKL Gene
PFKL (Phosphofructokinase, Liver Type) is a Protein Coding gene. Diseases associated with PFKL include Glycogen Storage Disease Vii and Down Syndrome. Among its related pathways are Glucose metabolism and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and monosaccharide binding. An important paralog of this gene is PFKM.
UniProtKB/Swiss-Prot Summary for PFKL Gene
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity).