Entrez 8403 | Ensembl ENSG00000168875 | |
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Aliases SOX14, SOX28, SRY-box 14 External IDs MGI: 98362 HomoloGene: 31224 GeneCards: SOX14 |
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.
References
SOX14 Wikipedia(Text) CC BY-SA