disease:Defects in TBX5 are the cause of Holt-Oram syndrome (HOS) [MIM:142900]. HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.,function:Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.,similarity:Contains 1 T-box DNA-binding domain.,
Nucleus . Cytoplasm . Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention. .
Lung,Spleen,
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