NEUROG1
Function
Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).
Involvement in disease
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
CCDDRD
An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expression restricted to the embryonic nervous system.
Cellular localization
- Nucleus
Alternative names
BHLHA6, NEUROD3, NGN, NGN1, NEUROG1, Neurogenin-1, NGN-1, Class A basic helix-loop-helix protein 6, Neurogenic basic-helix-loop-helix protein, Neurogenic differentiation factor 3, bHLHa6, NeuroD3