FGF13
Description
The FGF13 (fibroblast growth factor 13) is a protein-coding gene located on chromosome X.
Fibroblast growth factor 13 (FGF13) is a protein encoded by the FGF13 gene in humans. It belongs to the fibroblast growth factor (FGF) family, which plays diverse roles in biological processes like embryonic development, cell growth, and tissue repair. The FGF13 gene's location in a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS) suggests it may be involved in familial cases of this syndrome. The specific function of FGF13 remains unclear. Multiple isoforms of the protein have been identified, and FGF13 isoform 1 (FGF13A) binds to the leucine-rich repeats of the hominid-specific receptor LRRC37B. This interaction reduces excitability in human pyramidal neurons of the cerebral cortex, a distinct feature compared to other mammals.
FGF13 is a microtubule-binding protein that directly interacts with tubulin, contributing to both microtubule polymerization and stabilization. This interaction may play a role in refining axons by inhibiting branching of axonal and leading processes. FGF13 is essential for neuron polarization and migration in the cerebral cortex and hippocampus. It regulates the transport and function of voltage-gated sodium channels. FGF13 may also be involved in MAPK signaling and is required for the development of axonal initial segment-targeting inhibitory GABAergic synapses formed by chandelier neurons.
FGF13 is also known as DEE90, FGF-13, FGF2, FHF-2, FHF2, LINC00889, XLID110.
Associated Diseases
- Intellectual developmental disorder, X-linked 110
- Generalized epilepsy with febrile seizures-plus
- Developmental and epileptic encephalopathy 90
