SOX10

Transcription factor SOX-10 is a is_associated_with::protein that in humans is encoded by the SOX10 is_associated_with::gene.

Function
This gene encodes a member of the SOX (SRY-related HMG-box) family of is_associated_with::transcription factors involved in the regulation of is_associated_with::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 is_associated_with::neural crest and is_associated_with::peripheral nervous system development.

In melanocytic cells there is evidence that SOX10 gene expression may be regulated by MITF.

Clinical significance
Mutations in this gene are associated with is_associated_with::Waardenburg-Shah, is_associated_with::Waardenburg-Hirschsprung disease, and with uveal melanoma.

Interactions
The interaction between SOX10 and is_associated_with::PAX3 is studied best in human patients with is_associated_with::Waardenburg syndrome, an autosomal dominant disorder which is divided into four different types based upon mutations in additional genes. SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularly is_associated_with::MITF which influences the development of is_associated_with::melanocytes as well as is_associated_with::neural crest formation. MITF expression can be transactivated by both SOX10 and PAX3 to have an additive effect. The two genes have binding sites near one another on the upstream enhancer of the c-RET gene. SOX10 is also thought to target is_associated_with::dopachrome tautomerase through a synergistic interaction with MITF which then results in other melanocyte alteration.

SOX10 can influence the generation of is_associated_with::myelin protein transcription through its interactions proteins such as is_associated_with::OLIG1 and is_associated_with::EGR2, which is important for the functionality of neurons. Other cofactors have been identified, such as is_associated_with::SP1, OCT6, NMI, is_associated_with::FOXD3 and is_associated_with::SOX2

The interaction between SOX10 and NMI seems to be coexpressed in is_associated_with::glial cells, gliomas, and the spinal cord and has been shown to modulate the transcriptional activity of SOX10.