Probable transcription factor. Promotes both hatching gland and neural crest cell fates, two of the cell populations that arise from the neural plate border. Acts downstream of msx1 to induce the neura...[+]

Probable transcription factor. Promotes both hatching gland and neural crest cell fates, two of the cell populations that arise from the neural plate border. Acts downstream of msx1 to induce the neural crest, cooperating with zic1 and mediating signals from both the wnt and fgf8 signaling pathways. Induction of hatching gland cell fate is independent of zic1. [-]

             Waardenburg syndrome type 3
             alveolar rhabdomyosarcoma
             craniofacial-deafness-hand syndrome

          RHABDOMYOSARCOMA 2; RMS2
          WAARDENBURG SYNDROME, TYPE 1; WS1
          WAARDENBURG SYNDROME, TYPE 3; WS3

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