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 6) is a Protein Coding gene. Diseases associated with SOX6 include Campomelic Dysplasia and Malignant Ependymoma. Among its related pathways are Endochondral Ossification and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is SOX13.
UniProtKB/Swiss-Prot 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.