Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox9 to induce neural crest progenitors. Acts downstream of wnt-signaling at the neural plate b...[+]

Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox9 to induce neural crest progenitors. Acts downstream of wnt-signaling at the neural plate border. Involved in the specification of neural crest progenitors fated to form the pigment cell lineage. [-]

             Waardenburg syndrome type 2E
             Waardenburg syndrome type 4C
             Waardenburg syndrome type 4A
             PCWH syndrome

          WAARDENBURG SYNDROME, TYPE 2E; WS2E
          YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
          WAARDENBURG SYNDROME, TYPE 4A; WS4A
          PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROM

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