SOX10

SOX10 is a gene that encodes a member of the SOX family of transcription factors. These transcription factors play a significant role in the regulation of embryonic development and in the determination of 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.

Function

The SOX10 gene is part of the SOX family of transcription factors, which are characterized by a distinctive HMG-box domain. This domain mediates the binding of these transcription factors to the DNA helix, allowing them to regulate gene expression. The SOX10 protein is known to play a crucial role in the development of the neural crest and the peripheral nervous system, as well as in the maintenance of cells in these tissues.

Clinical significance

Mutations in the SOX10 gene have been associated with Waardenburg syndrome type II and type IV, as well as with Kallmann syndrome, Hirschsprung disease, and Peripheral demyelinating neuropathy. These conditions are characterized by varying degrees of hearing loss, changes in skin and hair pigmentation, and neurological problems.

See also

• SOX genes
• Transcription factor
• Waardenburg syndrome
• Kallmann syndrome
• Hirschsprung disease