Sex Determining Region Y Box Protein 14 (SOX14)

SOX14 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.

The partial SOX14 sequence encodes a deduced protein with an HMG box-like domain sharing 57% sequence identity with the SRY HMG box. Like the HMG box of SRY, the HMG box-like domain of SOX28 contains a putative nuclear localization signal.