FGF14
Fibroblast growth factor 14 | |||||||||||
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Identifiers | |||||||||||
Symbols | FGF14 ; FHF4; MGC119129; SCA27 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3037 | ||||||||||
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Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Fibroblast growth factor 14, also known as FGF14, is a human gene.[1]
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 and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene.[1]
References
Further reading
- Smallwood PM, Munoz-Sanjuan I, Tong P; et al. (1996). "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. PMID 8790420.
- Wang Q, Bardgett ME, Wong M; et al. (2002). "Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14". Neuron. 35 (1): 25–38. PMID 12123606.
- Chumakov I, Blumenfeld M, Guerassimenko O; et al. (2002). "Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia". Proc. Natl. Acad. Sci. U.S.A. 99 (21): 13675–80. doi:10.1073/pnas.182412499. PMID 12364586.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- van Swieten JC, Brusse E, de Graaf BM; et al. (2003). "A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]". Am. J. Hum. Genet. 72 (1): 191–9. PMID 12489043.
- Dunham A, Matthews LH, Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.
- Popovici C, Conchonaud F, Birnbaum D, Roubin R (2004). "Functional phylogeny relates LET-756 to fibroblast growth factor 9". J. Biol. Chem. 279 (38): 40146–52. doi:10.1074/jbc.M405795200. PMID 15199049.
- Stevanin G, Durr A, Dussert C; et al. (2005). "Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians". Neurology. 63 (5): 936. PMID 15365159.
- Dalski A, Atici J, Kreuz FR; et al. (2005). "Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias". Eur. J. Hum. Genet. 13 (1): 118–20. doi:10.1038/sj.ejhg.5201286. PMID 15470364.
- Lou JY, Laezza F, Gerber BR; et al. (2006). "Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels". J. Physiol. (Lond.). 569 (Pt 1): 179–93. doi:10.1113/jphysiol.2005.097220. PMID 16166153.
- Brusse E, de Koning I, Maat-Kievit A; et al. (2006). "Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype". Mov. Disord. 21 (3): 396–401. doi:10.1002/mds.20708. PMID 16211615.
- Zhao Y, Lim SW, Tan EK (2007). "Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (3): 395–6. doi:10.1002/ajmg.b.30472. PMID 17221845.
- Wozniak DF, Xiao M, Xu L; et al. (2007). "Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14". Neurobiol. Dis. 26 (1): 14–26. doi:10.1016/j.nbd.2006.11.014. PMID 17236779.
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