SOX3

Transcription factor SOX-3 is a is_associated_with::protein that in humans is encoded by the SOX3 is_associated_with::gene.

This gene encodes a member of the SOX (SRY-related is_associated_with::HMG-box) family of is_associated_with::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 in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.