Definitions

SOX3

SOX3

SRY (sex determining region Y)-box 3, also known as SOX3, is a human gene.

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 in this gene have been associated with X-linked hypopituitsarism (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.

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