FGF12
Function
Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.
Involvement in disease
Developmental and epileptic encephalopathy 47
DEE47
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the heparin-binding growth factors family.
Tissue Specificity
Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple midbrain structures.
Cellular localization
- Nucleus
Alternative names
FGF12B, FHF1, FGF12, Fibroblast growth factor 12, FGF-12, Fibroblast growth factor homologous factor 1, Myocyte-activating factor, FHF-1