Symbol T-box InterPro IPR001699 SCOP 1xbr | Pfam PF00907 PROSITE PS50252 SUPERFAMILY 1xbr | |
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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:
References
T-box Wikipedia(Text) CC BY-SA