An abnormal or missing SOX10 protein cannot control genes that signal neural crest cells to become specific cell types. Most SOX10 gene variants lead to the production of an abnormal version of the SOX10 protein or prevent the gene from making any protein. People with type IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Both types of Waardenburg syndrome are characterized by changes in skin, hair, and eye coloring and hearing loss. Variants (also known as mutations) in the SOX10 gene have been identified in people with Waardenburg syndrome type II and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Melanin is also involved in the normal function of the inner ear.
Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye color. 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. 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. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. SOX proteins are called transcription factors on the basis of this action.ĭuring embryonic development, the SOX10 gene is active in cells called neural crest cells. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. The SOX gene family also maintains the normal function of certain cells after birth. The SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development.
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