FGF14 / SCA27蛋白產品信息 產品名稱:重組人 FGF14 / SCA27 (isoform 1B) 蛋白|Fibroblast growth factor 14 Protein|產品詳情|現貨 別名: RP11-397O8.6, FGF-14, FHF-4, FHF4, SCA27 表達方式: A DNA sequence encoding the human FGF14 isoform 1B (NP_787125.1) (Lys 64-Thr 252 ) was expressed and purified. 種屬: Human 表達宿主: E.coli FGF14 / SCA27 Protein QC Testing 純度: > 97 % as determined by SDS-PAGE SDS-PAGE 內**: Please contact us for more information. 穩定性: Samples are stable for up to twelve months from date of receipt at -70℃ 預測N端: Met 分子量: The recombinant human FGF14 consisting of 190 amino acids and has a calculated molecular mass of 21.1KDa. It migrates as an approximately 18KDa band in SDS-PAGE under reducing conditions. 緩沖液: Lyophilized from sterile PBS, pH7.5. Normally 5 % - 8 % trehalose and mannitol are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA. Please contact us for any concerns or special requirements. FGF14 / SCA27 Protein Usage Guide 儲存方法: Store it under sterile conditions at -70℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles. Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information. FGF14 / SCA27蛋白背景綜述 FGF14 belongs to the fibroblast growth factor (FGF) family. FGF family members are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. FGF14 probably plays a role in nervous system development and function. A mutation in FGF14 gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. Defects in FGF14 can cause spinocerebellar ataxia type 27 (SCA27). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27 is a slowly progressive disorder, with onset in late-childhood to early *****hood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits. 參考文獻 Wang Q. et al., 2002, Neuron. 35 (1): 25-38. Zhao Y. et al., 2007, Am J Med Genet. 144B (3): 395-6. Lou JY. et al., 2005, J Physiol. 569 (1): 179-93. 包裝:20ug
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