CUX2
Function
Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence-specific manner.
Involvement in disease
Developmental and epileptic encephalopathy 67
DEE67
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. DEE67 is an autosomal dominant form characterized by onset of seizures in infancy. Later onset of seizures in childhood may occur in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CUT homeobox family.
Cellular localization
- Nucleus
Alternative names
CUTL2, KIAA0293, CUX2, Homeobox protein cut-like 2, Homeobox protein cux-2