SOX14
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.[5][6]
External IDsOMIM: 604747; MGI: 98362; HomoloGene: 31224; GeneCards: SOX14; OMA:SOX14 - orthologs
Function
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.[6]
