General Description
SOX11 (SRY-box 11) is a transcription factor, that has a high mobility group (HMG) box. It is located on human chromosome 2p25. The protein is expressed in the central and peripheral nervous system, lungs, gastrointestinal tract, pancreas, spleen, kidneys, gonads and the mesenchyme.
Biochem/physiol Actions
SOX11 (SRY-box 11) plays an important role in the development of the brain. Deletion and de novo mutations of SOX11 results in neurodevelopmental disorders along with characteristics of Coffin?Siris syndrome. The protein also has a role in embryonic and adult neurogenesis, craniofacial osteogenesis, ocular morphogenesis and cardiac growth.
