SOX8
Description
The SOX8 (SRY-box transcription factor 8) is a protein-coding gene located on chromosome 16.
SOX8 is a gene that encodes a transcription factor involved in regulating embryonic development and determining cell fate. The protein encoded by SOX8 may act as a transcriptional activator by forming a protein complex with other proteins. It may be involved in brain development and function. A deficiency in SOX8 may contribute to mental retardation, particularly in individuals with ATR-16 syndrome, a condition characterized by hemoglobin H-related mental retardation.
SOX8 is also known as -.
Associated Diseases
- multiple sclerosis
- 46,XY disorder of sex development
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
