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T-box

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:

  • TBR1
  • TBX1
  • TBX2
  • TBX3
  • TBX4
  • TBX5
  • TBX6
  • TBX10
  • TBX15
  • TBX18
  • TBX19
  • TBX20
  • TBX21
  • TBX22