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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

SOX gene family

Reviewed March 2009

What are the SOX genes?

Genes in the SOX family play a critical role in the formation of tissues and organs during early development. These genes also maintain the normal function of certain cells after birth. To carry out these roles, genes in the SOX family provide instructions for making proteins that attach (bind) to specific areas of DNA. By attaching to regions of DNA near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.

Researchers have identified 20 genes in the SOX family. Mutations in these genes lead to disorders that involve the abnormal development of tissues in which a particular SOX gene is active (expressed). As a result, the genetic disorders caused by SOX mutations typically have a wide variety of signs and symptoms.

Which genes are included in the SOX gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families ( and their member genes.

Genetics Home Reference summarizes the normal function and health implications of these members of the SOX gene family: SOX2, SOX9, and SOX10.

What conditions are related to genes in the SOX gene family?

Genetics Home Reference includes these conditions related to genes in the SOX gene family:

  • campomelic dysplasia
  • combined pituitary hormone deficiency
  • isolated Pierre Robin sequence
  • microphthalmia
  • septo-optic dysplasia
  • SOX2 anophthalmia syndrome
  • Swyer syndrome
  • Waardenburg syndrome

Where can I find additional information about the SOX gene family?

You may find the following resources about the SOX gene family helpful.

  • Eurekah Bioscience Collection (2003): Sox and Oct ( (U.S. National Library of Medicine)

What glossary definitions help with understanding the SOX gene family?

DNA ; expressed ; gene ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


These sources were used to develop the Genetics Home Reference summary for the SOX gene family.

  • Kiefer JC. Back to basics: Sox genes. Dev Dyn. 2007 Aug;236(8):2356-66. Review. (
  • Lefebvre V, Dumitriu B, Penzo-Méndez A, Han Y, Pallavi B. Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors. Int J Biochem Cell Biol. 2007;39(12):2195-214. Epub 2007 Jun 6. Review. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: March 2009
Published: February 8, 2016