Biology:SOX14

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.

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.

Further reading

• "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development 12 (4): 441–6. August 2002. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890. 
• "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell 3 (2): 167–70. August 2002. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848. 
• "Further complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCR". FEBS Letters 438 (3): 311–4. November 1998. doi:10.1016/S0014-5793(98)01294-0. PMID 9827568. 
• "The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3". Mammalian Genome 10 (9): 934–7. September 1999. doi:10.1007/s003359901118. PMID 10441749. 
• "SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome". Human Genetics 106 (3): 269–76. March 2000. doi:10.1007/s004390051037. PMID 10798354. 
• "Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases". Human Genetics 106 (4): 432–9. April 2000. doi:10.1007/s004390000266. PMID 10830911.