SOX3
Description
The SOX3 (SRY-box transcription factor 3) is a protein-coding gene located on chromosome X.
SOX3, encoded by the SOX3 gene, is a transcription factor belonging to the SOX family. It is crucial for regulating embryonic brain development and determining cell fate. Mutations in SOX3 have been linked to X-linked hypopituitarism (XH) and X-linked mental retardation. Individuals with XH, who are male, exhibit short stature, mild mental retardation, and pan-hypopituitarism. Duplication of the SOX3 gene has been associated with XX male sex reversal. Alongside other SOX transcription factors, SOX3 ensures proper formation of the hypothalamo-pituitary axis, which is essential for regulating systemic hormonal function.
SOX3 is also known as GHDX, MRGH, PHP, PHPX, SOXB.
Associated Diseases
- Panhypopituitarism, X-linked
- Non-acquired panhypopituitarism
- 46,XX testicular difference of sex development
- Mental retardation, X-linked, with isolated growth hormone deficiency
- Septo-optic dysplasia spectrum
- X-linked intellectual disability with isolated growth hormone deficiency
