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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dominant megacolon, mouse, human homolog of; MGC15649; SRY; SRY (sex determining region Y)-box 10; SRY box 10; SRY-related HMG-box gene 10; Transcription factor SOX-10
Gene Aliases: DOM; PCWH; SOX10; WS2E; WS4; WS4C
UniProt ID: (Human) P56693
Entrez Gene ID: (Human) 6663