Aliases for SOX6 Gene
External Ids for SOX6 Gene
Previous GeneCards Identifiers for SOX6 Gene
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
GeneCards Summary for SOX6 Gene
SOX6 (SRY-Box Transcription Factor 6) is a Protein Coding gene. Diseases associated with SOX6 include Multiple Synostoses Syndrome and Cartilage Disease. Among its related pathways are NOTCH1 regulation of human endothelial cell calcification and Deactivation of the beta-catenin transactivating complex. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX5.
UniProtKB/Swiss-Prot Summary for SOX6 Gene
Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation.