SOX6
Developmental stage
Expressed in many prospective brain structures of fetuses (at protein level). Highly expressed in the developing brain with higher expression in the ganglionic eminence, the amygdaloid complex, and the hippocampus. The expression declines in all brain structures in the final stages of gestation and in the neonatal period, such that it is already as low in infants as in adults.
Function
Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).
Involvement in disease
Tolchin-Le Caignec syndrome
TOLCAS
An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylation inhibits the transcriptional activity.
Tissue Specificity
Expressed in a wide variety of tissues, most abundantly in skeletal musclen.
Cellular localization
- Nucleus
- Cytoplasm
Alternative names
Transcription factor SOX-6, SOX6