TBX5

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TBX5

A gene on chromosome 12q24.1 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development; TBX5 plays a role in cardiac development and specification of limb identity.
 
Molecular pathology
TBX5 mutations are associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limb.