T-box

For the computer science term, see Tbox.
T-box

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.[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.

Genes encoding T-box proteins include:

See also

References

  1. 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.

Further reading

External links

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