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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.
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Protein Aliases: dominant megacolon; MGC15649; Protein SOX-21; SRY; SRY-box containing gene 10; Transcription factor SOX-10; Transcription factor SOX-M
Gene Aliases: Dom; Sox-10; Sox10; Sox21
UniProt ID: (Mouse) Q04888
Entrez Gene ID: (Mouse) 20665