TBR1

TBR1 (T-box, brain, 1) is a protein that in humans is encoded by the TBR1 gene. It is a member of the T-box family of transcription factors, which play a crucial role in the regulation of developmental processes. TBR1 has been specifically implicated in the development and differentiation of the cerebral cortex.

Function

TBR1 is a transcription factor that is expressed in the developing brain, specifically in the cerebral cortex. It is involved in the differentiation and maturation of neurons, and it plays a critical role in the development of the cerebral cortex and amygdala. TBR1 regulates the expression of several genes involved in cortical development, including RELN and FEZF2.

Clinical significance

Mutations in the TBR1 gene have been associated with autism spectrum disorder (ASD) and intellectual disability. Studies have shown that individuals with TBR1 mutations often exhibit cortical dysplasia and other brain abnormalities. In addition, these individuals may also have behavioral abnormalities consistent with ASD.

Research

Research on TBR1 is ongoing, with scientists seeking to better understand its role in brain development and function. This research may lead to new insights into the causes of ASD and other neurodevelopmental disorders.

See also

• T-box
• Transcription factor
• Cerebral cortex
• Autism spectrum disorder

References

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