Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene. 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
Background References
1. Pingault V et al. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. J Med Genet. 2022 Feb
2. Yoon EC et al. TRPS1, GATA3, and SOX10 expression in triple-negative breast carcinoma. Hum Pathol. 2022 Jul
Tissue Specificity
Expressed in oligodendroglia of the spinal tube (at protein level).