SOX14(redirected from SRY (sex-determining region Y)-box 14)
SOX14A gene on chromosome 3q22-q23 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX14 may act as a transcription regulator after forming a complex with other proteins.
SOX14 mutations are associated with the limb defects occurring in blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome.
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