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Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.
In this study, the authors observed that rs1460922 of FGF12 was significantly associated with VT and identified that a de novo variation of FGF12 may be an important genetic risk factor for the pathogenesis of VT. PMID: 28775062
FGF12, RBFOX1, and MIR302F could be important in human heterotaxy, because they were noted in multiple cases. Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted. PMID: 27637763
FGF12 strongly induced the quiescent and contractile vascular smooth muscle cell phenotype and directly promoted VSMC lineage differentiation. PMID: 27470512
Results demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying early-onset epileptic encephalopathies and cerebellar atrophy PMID: 27164707
Nine SNPs of the FGF12 gene were associated with Kashin-Beck disease. PMID: 26290467
Data indicate that SCN5A variant (Nav1.5) p.H1849R affected interaction with fibroblast growth factor homologous factor (FHFs). PMID: 26392562
Q7R-FGF12 is a disease-associated BrS mutation. Moreover, these data suggest for the first time that FHF effects on Na(+) and Ca(2+) channels are separable. PMID: 24096171
VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12, VCL, or CX43 PMID: 23679094
PHOX2B, FGF12 and GAD2 genes are hypermethylated in colorectal neoplastic tissue PMID: 22552777
exogenous FGF12 can play a role in tissues by translocating into cells through the plasma membrane PMID: 21518765
Data describe the biophysical characterization and folding of fibroblast growth factor homologous factor-1b (FHF-1b) in comparison with acidic fibroblast growth factor (FGF-1), and show that FHF-1 is significantly more stable than FGF-1. PMID: 18289114
These findings suggest that FGF12 intracellularly suppresses radiation-induced apoptosis in mast cells independently of IB2. PMID: 18525161
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Involvement in disease
Epileptic encephalopathy, early infantile, 47 (EIEE47)
Subcellular Location
Nucleus.
Protein Families
Heparin-binding growth factors family
Tissue Specificity
Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple midbrain structures.