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This intronless gene encodes a member of the SOX (SRY-related HMG-box) 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 are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome.
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Protein Aliases: HMG box transcription factor SOX-14; Protein SOX-28; SRY (sex determining region Y)-box 14; Transcription factor SOX-14
Gene Aliases: SOX14; SOX28
UniProt ID: (Human) O95416
Entrez Gene ID: (Human) 8403
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