Sox10 gene

SOX10 stands for the acronym "Sex Determining Region Y-Box 10
"The SOX10 gene is located on chromosome 22 and encodes the SOX10 (SRY-related HMG-box) protein, a transcription factor which, together with other factors of the SOX family, plays an important role in the embryonic development of tissues and organs.

Antibodies against SOX10 react positively in desmoplastic melanoma, schwannomas, neurofibromas and granular cell tumors.

The SOX10 protein acts as a transcription factor after it has formed complexes with other proteins. These complexes bind to specific areas of the DNA. During embryonic development, the SOX10 gene is expressed in cells of the neural crest. Thus, the SOX protein is essential for the development of peripheral nerves, including melanocytes.
The SOX10 gene itself directly influences the activity of other genes (e.g. MITF), genes that are involved in the differentiation of undetermined cells of the neural crest.
Mutations in the SOX10 gene are associated with Waardenburg-Hirschsprung syndrome type IV.

In animals, mutations in this gene are associated with leucism (white spotting).

It remains to be seen to what extent increased serum levels of SOX10 are of prognostic significance in vitiligo.

1. Blokzijl A et al (2016) Elevated Levels of SOX10 in Serum from Vitiligo and Melanoma Patients, Analyzed by Proximity Ligation Assay. PLoS One 11:e0154214.
2. Kaufman CK et al (2016) A zebrafish melanoma model reveals emergence of neural crest identity during melanoma initiation. Science doi: 10.1126/science.aad2197.
3. Cordass T et al. (2016). SOX5 is involved in balanced MITF regulation in human melanoma cells. BMC Med Genomics. 9:10.
4. Long E et al (2016) High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness. Cancer Med doi: 10,1002/cam4,661.