FGF12

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]

Full Name

Fibroblast Growth Factor 12

Research Area

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.

Biological Process

Adult locomotory behavior Source: Ensembl
Cardiac muscle cell action potential involved in contraction Source: BHF-UCL
Cell-cell signaling Source: ProtInc
Chemical synaptic transmission Source: Ensembl
Fibroblast growth factor receptor signaling pathway Source: InterPro
Heart development Source: ProtInc
JNK cascade Source: MGI
Negative regulation of cation channel activity Source: Ensembl
Nervous system development Source: ProtInc
Neuromuscular process Source: Ensembl
Positive regulation of sodium ion transport Source: Ensembl
Regulation of membrane depolarization Source: Ensembl
Regulation of neuronal action potential Source: UniProtKB
Regulation of sodium ion transmembrane transport Source: BHF-UCL
Regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
Regulation of voltage-gated sodium channel activity Source: UniProtKB
Signal transduction Source: ProtInc

Cellular Location

Nucleus

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.