SOX14 explained
Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.[1] [2]
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.[2]
Further reading
- Wilson M, Koopman P . 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 . 12100890 . 10.1016/S0959-437X(02)00323-4 .
- Schepers GE, Teasdale RD, Koopman P . 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 . 12194848 . 10.1016/S1534-5807(02)00223-X . free .
- Cremazy F, Soullier S, Berta P, Jay P . 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 . 9827568 . 10.1016/S0014-5793(98)01294-0 . 551497 . free .
- Malas S, Duthie S, Deloukas P, Episkopou V . 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 . 10441749 . 10.1007/s003359901118 . 27862567 .
- Wilmore HP, Smith MJ, Wilcox SA, Bell KM, Sinclair AH . SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome . Human Genetics . 106 . 3 . 269–76 . March 2000 . 10798354 . 10.1007/s004390051037 . 1 November 2024 .
- Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P . Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases . Human Genetics . 106 . 4 . 432–9 . April 2000 . 10830911 . 10.1007/s004390000266 . 20519444 .
Notes and References
- Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M . Characterisation and mapping of the human SOX14 gene . Cytogenetics and Cell Genetics . 83 . 1–2 . 139–46 . Mar 1999 . 9925951 . 10.1159/000015149 . 24812709 .
- Web site: Entrez Gene: SOX14 SRY (sex determining region Y)-box 14.
