H6 Family Homeobox Protein 1 (HMX1)

HMX1 encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear.The recognition helix has a highly conserved 8-amino acid region specific to many homeobox genes. This suggested that DNA probes based on the conserved region of the third helix would serve as powerful tools to screen for homeobox genes. Probing a cDNA library constructed from human embryonic craniofacial tissue, they identified a novel homeobox cDNA encoding a protein they designated H6. The deduced H6 protein shares only 57 to 65% amino acid identity with previously reported homeodomains.