靶标:
SOX14
产品别名:
SOX28; SOX14; SRY-box transcription factor 14; SRY-box transcription factor 14; transcription factor SOX-14; HMG box transcription factor SOX-14; SRY (sex determining region Y)-box 14; SRY-box 14; 核转录因子SOX14;
背景信息:
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.