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This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency.
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Protein Aliases: similar to SRY (sex determining region Y)-box 3; SRY (sex determining region Y)-box 3; SRY box 3; SRY-box containing gene 3; Transcription factor SOX-3
Gene Aliases: GHDX; MRGH; PHP; PHPX; Sox-3; SOX3; SOXB
UniProt ID: (Human) P41225
Molecular Function: HMG box transcription factor