EMX1
Description
The EMX1 (empty spiracles homeobox 1) is a protein-coding gene located on chromosome 2.
EMX1, a member of the EMX family of transcription factors, is a protein encoded by the EMX1 gene in humans. EMX1 is expressed in the developing cerebrum and is involved in several key processes: determining positional identity, controlling the growth of neural stem cells, guiding the development of distinct neuronal types, and directing cells towards a neuronal or glial fate. The precise function of EMX1 is still being investigated, but its widespread role in corticogenesis suggests it might contribute to the identity of cortical neurons. Mice lacking EMX1 (Emx1-/-) are viable and show only minor forebrain defects. While the structure of the cerebral cortex appears normal at the cellular and molecular levels, the hippocampus is smaller in these mice. Notably, Emx1-/- mice completely lack the corpus callosum.
EMX1, along with its related protein EMX2, defines the division between the roof and archipallium during brain development. EMX1 may also work with OTX1 and OTX2 to determine the specific roles of cells in the developing central nervous system.
EMX1 is also known as -.
Associated Diseases
- schizophrenia
- mirror movements 1
- schizencephaly
- microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- complex cortical dysplasia with other brain malformations 7
- polymicrogyria with optic nerve hypoplasia
- ring chromosome Y
