Recombinant Human Fibroblast growth factor 14 (FGF14)

1. The data implicate FGF14 as an organizer of channel localization in the axon initial segment and provide insight into the coordination of KCNQ and voltage-gated sodium channel conductances in the regulation of membrane potential. PMID:27994149
2. Either the FGF14(V160A) or the FGF14(K74A/I76A) mutation was sufficient to abolish the FGF14-dependent regulation of peak transient Na(+) currents and the voltage-dependent activation and steady-state inactivation of Nav1.6; but only V160A with a concomitant alanine mutation at Tyr-158 could impede FGF14-dependent modulation of the channel fast inactivation. PMID:26994141
3. study reports on a two-generation French Canadian family affected with autosomal dominant episodic ataxia caused by a frameshift mutation leading to a premature stop codon in FGF14 PMID:25566820
4. identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex. PMID:25659151
5. family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis PMID:24252256
6. inhibition of GSK3 reduces the assembly of the FGF14.Nav channel complex, modifies FGF14-dependent regulation of Na(+) currents, and induces dissociation and subcellular redistribution of the native FGF14.Nav channel complex in hippocampal neurons. PMID:23640885
7. THe present study demonstrates that Spinocerebellar ataxia type 27 (SCA27) caused by FGF14 mutation is rare in Chinese SCA patients. PMID:22579694
8. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia PMID:12489043
9. A G->A variant was found in a single spinocerebellar ataxia patient in the 3' untranslated region, 31 bp to the STOP codon; it did not affect the polyadenylation site. FGF14 mutations are not a major cause of SCA in Caucasians. PMID:15365159
10. Frameshift mutation and polymorphisms in the fibroblast growth factor 14 gene is associated with ataxias PMID:15470364
11. these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS. PMID:16166153
12. a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. PMID:16211615
13. FGF14 mutations in Ataxia and childhood onset postural tremor. PMID:17221845

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HGNC: 3671

UNIGENE: Hs.508616

KEGG: hsa:2259

STRING: 9606.ENSP00000365301

OMIM: 601515