Gene Symbol | PFKL |
Entrez Gene ID | 5211 |
Full Name | phosphofructokinase, liver type |
Synonyms | ATP-PFK,PFK-B,PFK-L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to phosphofructokinase deficiency (1) |