The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene.
Dalski A, Atici J, Kreuz FR, et al. (2005). "Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias". Eur. J. Hum. Genet.13 (1): 118–20. doi:10.1038/sj.ejhg.5201286. PMID15470364.
Brusse E, de Koning I, Maat-Kievit A, et al. (2006). "Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype". Mov. Disord.21 (3): 396–401. doi:10.1002/mds.20708. PMID16211615.
Zhao Y, Lim SW, Tan EK (2007). "Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor". Am. J. Med. Genet. B Neuropsychiatr. Genet.144 (3): 395–6. doi:10.1002/ajmg.b.30472. PMID17221845.