Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14gene.[1][2]
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.[2]
References
^Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M (Mar 1999). "Characterisation and mapping of the human SOX14 gene". Cytogenet Cell Genet83 (1–2): 139–46. doi:10.1159/000015149. PMID9925951.
Wilson M, Koopman P (2003). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Curr. Opin. Genet. Dev.12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID12100890.
Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Dev. Cell3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID12194848.
Cremazy F, Soullier S, Berta P, Jay P (1998). "Further complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCR". FEBS Lett.438 (3): 311–4. doi:10.1016/S0014-5793(98)01294-0. PMID9827568.
Malas S, Duthie S, Deloukas P, Episkopou V (1999). "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". Mamm. Genome10 (9): 934–7. doi:10.1007/s003359901118. PMID10441749.
Wilmore HP; Smith MJ; Wilcox SA et al. (2000). "SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome". Hum. Genet.106 (3): 269–76. doi:10.1007/s004390051037. PMID10798354.Cite uses deprecated parameter |author-separator= (help)
Hargrave M; James K; Nield K et al. (2000). "Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases". Hum. Genet.106 (4): 432–9. doi:10.1007/s004390000266. PMID10830911.Cite uses deprecated parameter |author-separator= (help)
1gt0: CRYSTAL STRUCTURE OF A POU/HMG/DNA TERNARY COMPLEX
1o4x: TERNARY COMPLEX OF THE DNA BINDING DOMAINS OF THE OCT1 AND SOX2 TRANSCRIPTION FACTORS WITH A 19MER OLIGONUCLEOTIDE FROM THE HOXB1 REGULATORY ELEMENT