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T-box

T-box
1H6F.png
Crystallographic structure of the TBX3 protein dimer (cyan and green) complexed with DNA (brown) based on the PDB: 1h6f​ coordinates.
Identifiers
Symbol T-box
Pfam PF00907
InterPro IPR001699
PROSITE PS50252
SCOP 1xbr
SUPERFAMILY 1xbr

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:



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Wikipedia

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