The otx2 protein is a paired-like homeodomain transcription factor localized to the nucleus. It binds DNA and regulates gene expression. Its functions include specifying anterior neural plate fate, pat...[+]

The otx2 protein is a paired-like homeodomain transcription factor localized to the nucleus. It binds DNA and regulates gene expression. Its functions include specifying anterior neural plate fate, patterning the forebrain and midbrain, and inducing the formation of the eyes. It is involved in the development of the cement gland and olfactory placodes. The protein is necessary for the correct establishment of the rostral head organizer and acts upstream of other genes like gbx2 to set the midbrain-hindbrain boundary. [-]

             patterned macular dystrophy
             microphthalmia
             hypopituitarism
             syndromic microphthalmia 5

          PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD

GSE145619.