Gene: PFKFB4

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Type of Gene: protein-coding

rs191903670 in PFKFB4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs191903670 in PFKFB4 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.