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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Available protein structures: | |
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Pfam | structures |
PDB | RCSB PDB; PDBe; PDBj |
PDBsum | structure summary |
T-box refers to a group of transcription factors involved in limb and heart development.
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.
Genes encoding T-box proteins include: