EMX2

EMX2 is a gene that encodes a protein involved in the development of the central nervous system. This gene is part of the homeobox gene family, which are critical for body layout and brain structure during embryogenesis.

Function

The EMX2 gene provides instructions for making a protein that is involved in the development of the cerebral cortex, which is the outer layer of the brain. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the EMX2 protein plays a critical role in the establishment of the anteroposterior (front-back) axis of the cerebral cortex and in the specification of neuron identity.

Clinical significance

Mutations in the EMX2 gene have been associated with schizencephaly, a rare developmental disorder characterized by abnormal slits or clefts in the cerebral hemispheres. EMX2 is also thought to play a role in microcephaly, a condition characterized by a smaller than normal brain size.

Research

Research on the EMX2 gene has focused on its role in brain development and its potential involvement in neurological disorders. Studies have shown that the EMX2 protein is critical for the proper formation of the cerebral cortex and that alterations in this protein can lead to significant developmental abnormalities.

See also

• Homeobox
• Transcription factor
• Schizencephaly
• Microcephaly

References

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