信号通路: MAPK_ERK_Growth;MAPK_G_Protein;Regulates Actin and Cytoskeleton;Pathways in cancer;Melanoma;
功能: disease:Defects in FGF14 are the cause of spinocerebellar ataxia type 27 (SCA27) [MIM:609307]. 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.,function:Probably involved in nervous system development and function.,similarity:Belongs to the heparin-binding growth factors family.,tissue specificity:Nervous system.,
信号通路: MAPK_ERK_Growth;MAPK_G_Protein;Regulates Actin and Cytoskeleton;Pathways in cancer;Melanoma;
功能: disease:Defects in FGF14 are the cause of spinocerebellar ataxia type 27 (SCA27) [MIM:609307]. 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.,function:Probably involved in nervous system development and function.,similarity:Belongs to the heparin-binding growth factors family.,tissue specificity:Nervous system.,