SOX6
Description
The SOX6 (SRY-box transcription factor 6) is a protein-coding gene located on chromosome 11.
SOX6 is a protein encoded by the SOX6 gene in humans. It belongs to the SOX gene family, which encodes transcription factors characterized by their conserved high mobility group (HMG) DNA-binding domain. Unlike most transcription factors, SOX proteins bind to the minor groove of DNA, introducing a bend and conformational changes. SOX6 interacts with CTBP2 and CENPK. It accumulates in differentiating erythrocytes and downregulates its own transcription by directly binding to conserved sequences near its start site. SOX6 is crucial for regulating globin genes and red blood cell differentiation. It may also be involved in Ewing sarcoma growth. A study using a Sox6 knockout mouse model revealed its role in renin and prorenin regulation, showing that Sox6 is a key regulator of these processes during low salt and dehydration.
SOX6 is a transcription factor that plays a crucial role in various developmental processes, including neurogenesis, chondrocyte differentiation, and cartilage formation. It specifically binds to the 5'-AACAAT-3' DNA motif found in enhancers and super-enhancers, promoting the expression of genes essential for chondrogenesis. SOX6 is required for overt chondrogenesis, where condensed prechondrocytes differentiate into early-stage chondrocytes. In collaboration with SOX5, it binds to active enhancers and super-enhancers associated with cartilage-specific genes, enhancing SOX9's transactivation ability. SOX6, along with SOX5, is vital for forming and maintaining a population of rapidly proliferating chondroblasts between epiphyses and metaphyses, leading to the formation of columnar chondroblasts, delaying prehypertrophy while promoting hypertrophy, and delaying terminal differentiation of chondrocytes when they encounter ossification fronts. SOX6 binds to the proximal promoter region of the myelin protein MPZ gene, contributing to oligodendroglia differentiation in the developing spinal cord. Furthermore, SOX6 binds to the MBP gene promoter, acting as a transcriptional repressor.
SOX6 is also known as HSSOX6, SOXD, TOLCAS.
