SOX6

SOX6 is a transcription factor in humans encoded by the SOX6 gene. It belongs to the SRY-related HMG-box (SOX) family of DNA-binding proteins and is part of the SoxD subgroup, together with SOX5 and SOX13. SOX6 proteins contain a conserved HMG-box domain that recognizes DNA and modulates transcription, often in collaboration with other regulatory factors.

SOX6 is expressed in developing tissues including cartilage, skeletal muscle, and the nervous system. In chondrogenesis it acts with SOX9 and SOX5 to activate cartilage matrix genes such as COL2A1 and aggrecan, supporting proper differentiation and maturation of chondrocytes. In muscle and neural development, SOX6 participates in lineage specification and progenitor cell regulation, with effects that depend on cellular context and interacting partners.

In cooperation with SOX9 and other factors, SOX6 helps form a transcriptional network that governs chondrocyte differentiation. Studies in animal models show that loss of SOX6 leads to skeletal and muscle abnormalities, highlighting its essential role in development.

Clinical and research relevance: Altered SOX6 expression has been linked to changes in various diseases and is a focus of developmental biology and regenerative medicine research, with potential implications for skeletal disorders and muscle repair. Ongoing work seeks to clarify its target genes and interactions to inform disease modeling and potential therapeutic strategies.