fibroblast growth factor 12
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Involved in nervous system development and function. Promote neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.
FGF12 mutations are a cause of early infantile epileptic encephalopathy with progressive cerebellar atrophy. A form of epilepsy characterized by frequent tonic seizures beginning in infancy, with a typical ictal EEG pattern of low voltage fast activity, followed by a long suppression of the background. Patients develop profound intellectual disability, acquired microcephally, axial hypotonia, ataxia, severe feeding difficulties, cerebral visual impairment, absent speech development, and sudden death in epilepsy.