SOX14


Description

The SOX14 (SRY-box transcription factor 14) is a protein-coding gene located on chromosome 3.

SOX14 is a gene that encodes a protein called SOX14. This protein is a member of the SOX (SRY-related HMG-box) family of transcription factors, which are involved in regulating embryonic development and cell fate decisions. The SOX14 protein likely acts as a transcriptional regulator by forming protein complexes with other proteins. Mutations in the SOX14 gene are linked to limb defects seen in syndromes like blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), and Mobius syndrome.

SOX14 is also known as SOX28.

Associated Diseases



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