FGF13
Function
Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). Regulates voltage-gated sodium channel transport and function (PubMed:15282281, PubMed:33245860, PubMed:36696443). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 90
DEE90
A form of epileptic encephalopathy, a heterogeneous group of 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. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, X-linked 110
XLID110
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be phosphorylated.
Sequence Similarities
Belongs to the heparin-binding growth factors family.
Tissue Specificity
Ubiquitously expressed. Predominantly expressed in the nervous system.
Cellular localization
- Isoform 1
- Nucleus
- Isoform 2
- Cytoplasm
- Nucleus
- Isoform 3
- Cytoplasm
- Nucleus
- Isoform 4
- Cytoplasm
- Nucleus
- Isoform 5
- Cytoplasm
- Nucleus
- Cell projection
- Filopodium
- Cell projection
- Growth cone
- Cell projection
- Dendrite
- Cell membrane
- Sarcolemma
- Cytoplasm
- Not secreted. Localizes to the lateral membrane and intercalated disks of myocytes.
Alternative names
FHF2, FGF13, Fibroblast growth factor 13, FGF-13, Fibroblast growth factor homologous factor 2, FHF-2