OTX1

OTX1, short for orthodenticle homeobox 1, is a protein-coding gene that encodes a transcription factor belonging to the orthodenticle homeobox (OTX) family. Members of this family are evolutionarily conserved DNA-binding proteins characterized by a homeodomain that regulates gene expression during embryonic development.

During vertebrate development, OTX1 is expressed in the anterior neural plate and developing brain, including the forebrain and midbrain-hindbrain boundary, as well as in cranial placodes that give rise to sensory organs such as the eye and olfactory system. The gene participates in establishing regional identity in the head and in the formation of sensory structures. OTX1 functions in a gene regulatory network with related factors, notably OTX2, and can have overlapping roles with them.

In mouse models, loss- or reduction-of-function of Otx1 leads to defects in brain and sensory structures, supporting a role in neural patterning and cranial organ development. In humans, OTX1 is conserved and regulated as part of the head-development program; rare genetic alterations affecting OTX1 have been reported in association with neurodevelopmental or craniofacial phenotypes in some studies, but causal links remain to be established.

Overall, OTX1 is a developmentally important transcription factor that contributes to the patterning of the anterior nervous system and the formation of cranial sensory organs, functioning within a network of OTX family members and other developmental regulators.