FGF13
Template:Short description Template:Cs1 configAn Error has occurred retrieving Wikidata item for infobox 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.[2] 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,[3] a divergent cellular property of human pyramidal neurons compared to other mammals.[3]
References
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- ^ Page Module:Citation/CS1/styles.css has no content.Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, et al. (October 1996). "Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development". Proceedings of the National Academy of Sciences of the United States of America. 93 (18): 9850–9857. Bibcode:1996PNAS...93.9850S. doi:10.1073/pnas.93.18.9850. PMC 38518. PMID 8790420.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: FGF13 fibroblast growth factor 13".
- ^ a b c Page Module:Citation/CS1/styles.css has no content.Libé-Philippot B, Lejeune A, Wierda K, Louros N, Erkol E, Vlaeminck I, et al. (December 2023). "LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons". Cell. 186 (26): 5766–5783.e25. doi:10.1016/j.cell.2023.11.028. PMC 10754148. PMID 38134874.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD (July 2004). "Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons". The Journal of Neuroscience. 24 (30): 6765–6775. doi:10.1523/JNEUROSCI.1628-04.2004. PMC 6729706. PMID 15282281.
- Page Module:Citation/CS1/styles.css has no content.Popovici C, Conchonaud F, Birnbaum D, Roubin R (2004). "Functional phylogeny relates LET-756 to fibroblast growth factor 9". The Journal of Biological Chemistry. 279 (38): 40146–40152. doi:10.1074/jbc.M405795200. PMID 15199049.
- Page Module:Citation/CS1/styles.css has no content.Facchiano A, Russo K, Facchiano AM, De Marchis F, Facchiano F, Ribatti D, et al. (March 2003). "Identification of a novel domain of fibroblast growth factor 2 controlling its angiogenic properties". The Journal of Biological Chemistry. 278 (10): 8751–8760. doi:10.1074/jbc.M209936200. PMID 12496262.
- Page Module:Citation/CS1/styles.css has no content.Schoorlemmer J, Goldfarb M (2003). "Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase". The Journal of Biological Chemistry. 277 (51): 49111–49119. doi:10.1074/jbc.M205520200. PMC 4266389. PMID 12244047.
- Page Module:Citation/CS1/styles.css has no content.Knox S, Merry C, Stringer S, Melrose J, Whitelock J (April 2002). "Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors". The Journal of Biological Chemistry. 277 (17): 14657–14665. doi:10.1074/jbc.M111826200. PMID 11847221.
- Page Module:Citation/CS1/styles.css has no content.Munoz-Sanjuan I, Smallwood PM, Nathans J (2000). "Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promoter usage and differential splicing". The Journal of Biological Chemistry. 275 (4): 2589–2597. doi:10.1074/jbc.275.4.2589. PMID 10644718.
- Page Module:Citation/CS1/styles.css has no content.Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, et al. (January 1999). "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". Human Genetics. 104 (1): 56–63. doi:10.1007/s004390050910. PMID 10071193. S2CID 29716695.
- Page Module:Citation/CS1/styles.css has no content.Yao DL, Masonic K, Petullo D, Li LY, Lincoln C, Wibberley L, et al. (February 1999). "Pretreatment with intravenous FGF-13 reduces infarct volume and ameliorates neurological deficits following focal cerebral ischemia in rats". Brain Research. 818 (1): 140–146. doi:10.1016/S0006-8993(98)01118-4. PMID 9914447. S2CID 23714326.
- Page Module:Citation/CS1/styles.css has no content.Greene JM, Li YL, Yourey PA, Gruber J, Carter KC, Shell BK, et al. (May 1998). "Identification and characterization of a novel member of the fibroblast growth factor family". The European Journal of Neuroscience. 10 (5): 1911–1925. doi:10.1046/j.1460-9568.1998.00211.x. PMID 9751161. S2CID 26104531.
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