EMX2
Function
Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR).
Involvement in disease
Schizencephaly
SCHZC
Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EMX homeobox family.
Tissue Specificity
Cerebral cortex.
Cellular localization
- Nucleus
- Cell projection
- Axon
- Detected in axons within the olfactory mucosa and glomeruli in the olfactory bulb.
Alternative names
Homeobox protein EMX2, Empty spiracles homolog 2, Empty spiracles-like protein 2, EMX2