NEUROD2
Domain
The C-terminal region is necessary for depolarization-induced and calcium-dependent transcription activation.
Function
Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 72
DEE72
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. DEE72 is an autosomal dominant form with variable severity and onset in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
BHLHA1, NDRF, NEUROD2, Neurogenic differentiation factor 2, NeuroD2, Class A basic helix-loop-helix protein 1, NeuroD-related factor, bHLHa1