SOX6
SOX6 is a gene that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in chondrogenesis.
Function[edit | edit source]
SOX6 is a member of the SOX family of transcription factors, which are characterized by the presence of a high-mobility group (HMG) DNA-binding domain. The SOX family plays a critical role in the regulation of embryonic development and determination of cell fate.
SOX6 is known to play a significant role in chondrogenesis, the process by which cartilage is formed from condensed mesenchyme tissue. This process is crucial to the formation of the skeletal system during embryonic development.
Clinical Significance[edit | edit source]
Mutations in the SOX6 gene have been associated with a variety of medical conditions. For example, a study found that a mutation in the SOX6 gene was associated with spondyloepimetaphyseal dysplasia, a rare genetic disorder characterized by skeletal abnormalities.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
