FGF14
Function
Probably involved in nervous system development and function.
Involvement in disease
Spinocerebellar ataxia 27A
SCA27A
A form of spinocerebellar ataxia, 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. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Spinocerebellar ataxia 27B, late-onset
SCA27B
A form of spinocerebellar ataxia, 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. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood.
None
The disease is caused by variants affecting the gene represented in this entry. SCA27B is caused by GAA(n) trinucleotide repeat expansions with a size above 250 repeats in FGF14 intron 1. Expansions ranging from 250 to 300 repeats are pathogenic albeit with reduced penetrance, whereas those above 300 are fully penetrant.
Sequence Similarities
Belongs to the heparin-binding growth factors family.
Tissue Specificity
Nervous system.
Cellular localization
- Nucleus
Alternative names
FHF4, FGF14, Fibroblast growth factor 14, FGF-14, Fibroblast growth factor homologous factor 4, FHF-4