FGF14 / SCA27 (isoform 1B) Protein (Native)

Fibroblast growth factor 14 Protein Datasheet

FGF14 / SCA27 Protein Product Information

• Synonym: RP11-397O8.6, FGF-14, FHF-4, FHF4, SCA27
• Protein Construction: A DNA sequence encoding the human FGF14 isoform 1B (NP_787125.1) (Lys 64-Thr 252 ) was expressed and purified.
• Source: Human
• Expression Host: E.coli

FGF14 / SCA27 Protein QC Testing

• Purity: > 97 % as determined by SDS-PAGE
• Endotoxin: Please contact us for more information.
• Stability: Samples are stable for up to twelve months from date of receipt at -70℃
• Predicted N terminal: Met
• Molecular Mass: 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.
• Formulation: Lyophilized from sterile PBS, pH7.5.
  1. Normally 5 % - 8 % trehalose and mannitol are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA.
  2. Please contact us for any concerns or special requirements.
• SDS-PAGE: FGF14 / SCA27 protein

FGF14 / SCA27 Protein Usage Guide

• Storage: 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 Protein Description

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 adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.

References

1. Wang Q. et al., 2002, Neuron. 35 (1): 25-38.
2. Zhao Y. et al., 2007, Am J Med Genet. 144B (3): 395-6.
3. Lou JY. et al., 2005, J Physiol. 569 (1): 179-93.