| Gene Symbol | PFKL |
| Entrez Gene ID | 5211 |
| Full Name | phosphofructokinase, liver type |
| Synonyms | ATP-PFK,PFK-B,PFK-L |
| General protein information |
|
| 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) |
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