TBR1
Function
Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity).
Involvement in disease
Intellectual developmental disorder with autism and speech delay
IDDAS
An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Brain.
Cellular localization
- Nucleus
Alternative names
T-box brain protein 1, T-brain-1, TBR-1, TES-56, TBR1