FGF14 Antibody
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) FGF14 Polyclonal antibody
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Uniprot No.:Q92915
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基因名:FGF14
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别名:FGF14 antibody; FHF4Fibroblast growth factor 14 antibody; FGF-14 antibody; Fibroblast growth factor homologous factor 4 antibody; FHF-4 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Fibroblast growth factor 14 protein (1-252AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:Antigen Affinity Purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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产品提供形式:Liquid
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应用范围:ELISA
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Probably involved in nervous system development and function.
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基因功能参考文献:
- 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
- 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
- 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
- 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
- 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
- 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
- THe present study demonstrates that Spinocerebellar ataxia type 27 (SCA27) caused by FGF14 mutation is rare in Chinese SCA patients. PMID: 22579694
- A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia PMID: 12489043
- 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
- Frameshift mutation and polymorphisms in the fibroblast growth factor 14 gene is associated with ataxias PMID: 15470364
- these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS. PMID: 16166153
- 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
- FGF14 mutations in Ataxia and childhood onset postural tremor. PMID: 17221845
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相关疾病:Spinocerebellar ataxia 27 (SCA27)
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亚细胞定位:Nucleus.
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蛋白家族:Heparin-binding growth factors family
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组织特异性:Nervous system.
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数据库链接:
HGNC: 3671
OMIM: 601515
KEGG: hsa:2259
STRING: 9606.ENSP00000365301
UniGene: Hs.508616
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