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Notation for a gene for Waardenburg type 4 syndrome.
SOX10A gene on chromosome 22q13.1 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX10 may act as a transcription activator after forming a complex with other proteins; it acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development.
SOX10 mutations cause Waardenburg-Shah and Waardenburg-Hirschsprung disease.