FGF13 explained
Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene.[1] [2]
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, invasion, and neuronal physiology. This gene is located to a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Several alternatively spliced transcripts encoding different isoforms have been described for this gene. FGF13 isoform 1 (FGF13A) binds to the leucine-rich repeats of the hominid-specific receptor LRRC37B.[3] In human pyramidal neurons of the cerebral cortex, this interaction leads to a lower excitability, a divergent cellular property of human pyramidal neurons compared to other mammals.
Further reading
- Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
- Wittmack EK, Rush AM, Craner MJ . Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. . J. Neurosci. . 24 . 30 . 6765–75 . 2005 . 15282281 . 10.1523/JNEUROSCI.1628-04.2004 . 6729706 . etal. free .
- Popovici C, Conchonaud F, Birnbaum D, Roubin R . Functional phylogeny relates LET-756 to fibroblast growth factor 9. . J. Biol. Chem. . 279 . 38 . 40146–52 . 2004 . 15199049 . 10.1074/jbc.M405795200 . free .
- Facchiano A, Russo K, Facchiano AM . Identification of a novel domain of fibroblast growth factor 2 controlling its angiogenic properties. . J. Biol. Chem. . 278 . 10 . 8751–60 . 2003 . 12496262 . 10.1074/jbc.M209936200 . etal. free .
- Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
- Schoorlemmer J, Goldfarb M . Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase. . J. Biol. Chem. . 277 . 51 . 49111–9 . 2003 . 12244047 . 10.1074/jbc.M205520200 . 4266389 . free .
- Knox S, Merry C, Stringer S . Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors. . J. Biol. Chem. . 277 . 17 . 14657–65 . 2002 . 11847221 . 10.1074/jbc.M111826200 . etal. free .
- Munoz-Sanjuan I, Smallwood PM, Nathans J . Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promoter usage and differential splicing. . J. Biol. Chem. . 275 . 4 . 2589–97 . 2000 . 10644718 . 10.1074/jbc.275.4.2589 . free .
- Gecz J, Baker E, Donnelly A . Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. . Hum. Genet. . 104 . 1 . 56–63 . 1999 . 10071193 . 10.1007/s004390050910 . 29716695 . etal.
- Yao DL, Masonic K, Petullo D . Pretreatment with intravenous FGF-13 reduces infarct volume and ameliorates neurological deficits following focal cerebral ischemia in rats. . Brain Res. . 818 . 1 . 140–6 . 1999 . 9914447 . 10.1016/S0006-8993(98)01118-4 . 23714326 . etal.
- Greene JM, Li YL, Yourey PA . Identification and characterization of a novel member of the fibroblast growth factor family. . Eur. J. Neurosci. . 10 . 5 . 1911–25 . 1998 . 9751161 . 10.1046/j.1460-9568.1998.00211.x . 26104531 . etal. free .
Notes and References
- Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J . Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development . Proc Natl Acad Sci U S A . 93 . 18 . 9850–7 . Oct 1996 . 8790420 . 38518 . 10.1073/pnas.93.18.9850 . 1996PNAS...93.9850S . free .
- Web site: Entrez Gene: FGF13 fibroblast growth factor 13.
- Libé-Philippot . Baptiste . Lejeune . Amélie . Wierda . Keimpe . Louros . Nikolaos . Erkol . Emir . Vlaeminck . Ine . Beckers . Sofie . Gaspariunaite . Vaiva . Bilheu . Angéline . Konstantoulea . Katerina . Nyitrai . Hajnalka . De Vleeschouwer . Matthias . Vennekens . Kristel M. . Vidal . Niels . Bird . Thomas W. . 2023-12-21 . LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons . Cell . 186 . 26 . 5766–5783.e25 . 10.1016/j.cell.2023.11.028 . 0092-8674. free . 38134874 . 10754148 .