Aliases for FGF12 Gene
External Ids for FGF12 Gene
Previous HGNC Symbols for FGF12 Gene
Previous GeneCards Identifiers for FGF12 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]
GeneCards Summary for FGF12 Gene
FGF12 (Fibroblast Growth Factor 12) is a Protein Coding gene. Diseases associated with FGF12 include Epileptic Encephalopathy, Early Infantile, 47 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include growth factor activity and ion channel binding. An important paralog of this gene is FGF14.
UniProtKB/Swiss-Prot Summary for FGF12 Gene
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.