BARHL2
BARHL2, also known as BarH-like homeobox 2, is a gene in humans and other vertebrates. It encodes a protein that functions as a transcription factor, belonging to the Bar homeobox family.
The BARHL2 protein plays a role in the development of various tissues, including the inner ear, the brain (particularly the cerebellum), and the kidney. It is characterized by a highly conserved homeobox domain, which enables it to bind to specific DNA sequences and regulate the expression of target genes.
Research suggests that BARHL2 is involved in neuronal differentiation, axon guidance, and the specification of cell fate within the developing nervous system. In the inner ear, it contributes to the formation of the cochlea and the differentiation of hair cells, which are essential for hearing.
Mutations or dysregulation of BARHL2 have been implicated in certain developmental disorders and neurological conditions. Studies have linked alterations in BARHL2 expression to hearing loss and cerebellar ataxia. Further research is ongoing to fully elucidate the precise mechanisms by which BARHL2 contributes to these and other related conditions.