T-box
From Wikipedia, the free encyclopedia
For the computer science term, see Tbox.
| T-box | |||||||
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Crystallographic structure of the TBX3 protein dimer (cyan and green) complexed with DNA (brown) based on the PDB: 1h6f coordinates.
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| Identifiers | |||||||
| Symbol | T-box | ||||||
| Pfam | PF00907 | ||||||
| InterPro | IPR001699 | ||||||
| PROSITE | PS50252 | ||||||
| SCOP | 1xbr | ||||||
| SUPERFAMILY | 1xbr | ||||||
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T-box refers to a group of transcription factors involved in limb and heart development.[1]
In humans and some other animals, defects in the TBX5 gene expression can lead to finger-like thumbs and ventricular septal defects in which there is no separation between the left and right ventricle of the heart and are responsible for Holt-Oram syndrome.
TBX3 is associated with ulnar-mammary syndrome in humans, but is also responsible for the presence or absence of dun color in horses, and has no deleterious effects whether expressed or not.[2]
Genes encoding T-box proteins include:
See also[edit]
References[edit]
- ^ Wilson V, Conlon FL (2002). "The T-box family". Genome Biol. 3 (6): REVIEWS3008. doi:10.1186/gb-2002-3-6-reviews3008. PMC 139375
. PMID 12093383. - ^ "A Horse of a Different Color: Genetics of camouflage and the dun pattern". Science Daily. December 21, 2015. Retrieved June 25, 2016.
Further reading[edit]
- Meisler (1997). "Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease." (PDF).
External links[edit]
- T-Box Domain Proteins at the US National Library of Medicine Medical Subject Headings (MeSH)
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