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SOX10

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

The SOX10 gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate. 

The encoded protein forms  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.

SOX10 is a transcription factor active during embryonic development and it is essential for the generation of glial lineages from trunk crest cells.

Mutations in this gene are associated with Waardenburg–Shah syndrome and uveal melanoma.

SOX10 is used as an immunohistochemistry marker, being positive in:

Neuroectodermal neoplasms of neural crest origin

Melanoma, although desmoplastic melanomas may be only focally positive.

Nevus

 SOX10 immunohistochemistry facilitates showing lentigo maligna.

SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularly MITF gene, which influences the development of melanocytes as well as neural crest formation. 

SOX10 can influence the generation of Myelin Protein Zero (MPZ) transcription through its interactions with proteins that are important for the functionality of neurons. 

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