SOX10 is 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. This protein may act as a transcriptional activator after forming a protein complex with other proteins. It 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.
DOM; dominant megacolon; dominant megacolon, mouse, human homolog of; MGC15649; PCWH; Protein SOX-21; SRY (sex determining region Y)-box 10; SRY box 10; SRY-box containing gene 10; SRY-related HMG-box gene 10; Transcription factor SOX-10; Transcription factor SOX-M; WS2E; WS4; WS4C
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