FGF14 Recombinant Protein

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. [provided by RefSeq, Jul 2008]

FGF14: Probably involved in nervous system development and function. Defects in FGF14 are the cause of 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 an autosomal dominant cerebellar ataxia (ADCA). It 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. Belongs to the heparin-binding growth factors family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; Cytokine

Chromosomal Location of Human Ortholog: 13q34

Cellular Component: extracellular region; nucleus

Molecular Function: heparin binding; growth factor activity; fibroblast growth factor receptor binding

Biological Process: nervous system development; synaptic transmission; fibroblast growth factor receptor signaling pathway; cell-cell signaling; adult locomotory behavior; neuromuscular process; JNK cascade; signal transduction

Disease: Spinocerebellar Ataxia 27