FGF14

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.

Full Name

Fibroblast Growth Factor 14

Research Area

Probably involved in nervous system development and function.

Biological Process

Cell-cell signaling Source: ProtInc
JNK cascade Source: MGI
Nervous system development Source: ProtInc
Positive regulation of high voltage-gated calcium channel activity Source: Ensembl
Regulation of postsynaptic membrane potential Source: Ensembl
Regulation of synaptic plasticity Source: Ensembl
Regulation of synaptic vesicle recycling Source: Ensembl
Regulation of voltage-gated sodium channel activity Source: GO_Central
Signal transduction Source: ProtInc

Cellular Location

Nucleus

Involvement in disease

Spinocerebellar ataxia 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.