图文详情
Application:IF,Flow-Cyt
Reactivity: Human (predicted: Mouse,Rat,Sheep,Cow,Horse)
Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.
Involvement in disease:Defects in TBX5 are the cause of Holt-Oram syndrome (HOS). HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.