The SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.
During embryonic development, the SOX10 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. The protein made by the SOX10 gene directs the activity of other genes (such as MITF) that signal neural crest cells to become more specific cell types. In particular, the SOX10 protein is essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.
Other Names
DOM; dominant megacolon, mouse, human homolog of; SOX10_HUMAN; SRY (sex determining region Y)-box 10; SRY box 10; SRY-related HMG-box gene 10; transcription factor SOX-10; WS4
Related Genetics Topics
- Waardenburg syndrome — MedlinePlus Genetics
- Kallmann syndrome — MedlinePlus Genetics
- Hirschsprung disease — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6663
- OMIM: 602229
- OMIM: 609136
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
