Structural highlights
Disease
ITF2_HUMAN Autosomal dominant non-syndromic intellectual disability;Fuchs endothelial corneal dystrophy;Pitt-Hopkins syndrome;Schizophrenia;Primary sclerosing cholangitis. The disease is caused by mutations affecting the gene represented in this entry.
Function
ITF2_HUMAN Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.
