SOX14

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SOX14

A 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.

Molecular pathology
SOX14 mutations are associated with the limb defects occurring in blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome.