This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator. Mutations and duplications in this gene have been associated with X-linked hypopituitarism (XH), X-linked mental retardation and XX male sex reversal. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.
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