This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008],DOM, PCWH, WS2E, WS4, WS4C,Cell Biology & Developmental Biology,Cell Type Marker,Cell Type Marker_Neural Stem Cell marker,Epigenetics & Nuclear Signaling,Neuroscience,Stem Cells,Transcription Factors,SOX10