Alternative titles; symbols
HGNC Approved Gene Symbol: PFKFB1
Cytogenetic location: Xp11.21 Genomic coordinates (GRCh38): X:54,932,961-54,998,789 (from NCBI)
Fructose-2,6-bisphosphate is an intracellular regulatory molecule that controls glycolysis in all eukaryotic tissues by integrating hormonal and metabolic signals. The synthesis and degradation of fructose 2,6-bisphosphate are catalyzed by 6-phosphofructo-2-kinase (EC 2.7.1.105) and fructose-2,6-bisphosphatase (EC 3.1.3.46), respectively. In liver, these 2 activities belong to the same polypeptide encoded by the gene PFKFB1, which also encodes the muscle isozyme (summary by Hilliker et al., 1991).
Darville et al. (1987) isolated a full-length cDNA encoding the rat liver enzyme. Algaier and Uyeda (1988) isolated a partial cDNA for the human liver enzyme.
By Southern analysis of human-rodent hybrid cell DNAs, Olson et al. (1989) demonstrated that the PFKFB1 gene is located on Xcen-q13. They also demonstrated a 2-allele RFLP useful for the localization of the gene by genetic linkage analysis.
Batra et al. (1997) mapped the PFKFB1 gene to Xp11.21 within a YAC contig clustered around ALAS2 (301300).
Hilliker et al. (1991) determined by in situ hybridization using probes generated by the polymerase chain reaction (PCR) that the human PFKFB1 gene is located on Xq27-q28 and the rat Pfkfb1 gene on Xq22-q31.
Algaier, J., Uyeda, K. Molecular cloning, sequence analysis, and expression of a human liver cDNA coding for fructose-6,2-kinase:fructose-2,6-bisphosphatase. Biochem. Biophys. Res. Commun. 153: 328-333, 1988. [PubMed: 2837207] [Full Text: https://doi.org/10.1016/s0006-291x(88)81226-9]
Batra, R. S., Hatchwell, E., Rider, S., Brown, R., Brown, G. K., Craig, I. W. Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21. Genomics 40: 358-361, 1997. [PubMed: 9119406] [Full Text: https://doi.org/10.1006/geno.1996.4530]
Darville, M. I., Crepin, K. M., Vanderkerckhove, J., Van Damme, J., Octave, J. N., Rider, M. H., Marchand, M. J., Hue, L., Rousseau, G. G. Complete nucleotide sequence coding for rat liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase derived from a cDNA clone. FEBS Lett. 224: 317-321, 1987. [PubMed: 2856848] [Full Text: https://doi.org/10.1016/0014-5793(87)80476-3]
Hilliker, C. E., Darville, M. I., Aly, M. S., Chikri, M., Szpirer, C., Marynen, P., Rousseau, G. G., Cassiman, J.-J. Human and rat chromosomal localization of two genes for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase by analysis of somatic cell hybrids and in situ hybridization. Genomics 10: 867-873, 1991. [PubMed: 1655632] [Full Text: https://doi.org/10.1016/0888-7543(91)90174-d]
Olson, S., Uyeda, K., McBride, O. W. Localization of fructose 6-P,2-kinase:fructose 2,6-bisphosphatase to human chromosome X. Somat. Cell Molec. Genet. 15: 617-621, 1989. [PubMed: 2574501] [Full Text: https://doi.org/10.1007/BF01534922]