The gene sox10 encodes a transcription factor protein containing an HMG DNA-binding domain that localizes to the nucleus. This protein is involved in the development of neural crest cells and their der...[+]

The gene sox10 encodes a transcription factor protein containing an HMG DNA-binding domain that localizes to the nucleus. This protein is involved in the development of neural crest cells and their derivatives, including melanophores. It functions by regulating the expression of downstream target genes such as mitf during pigment cell specification and differentiation. [-]

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

          WAARDENBURG SYNDROME, TYPE 4A; WS4A
          YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
          WAARDENBURG SYNDROME, TYPE 2E; WS2E
          WAARDENBURG SYNDROME, TYPE 4C; WS4C

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