基因名:
TBX5
产品别名:
HOS; TBX5; T-box transcription factor 5; T-box transcription factor 5; T-box transcription factor TBX5; T-box 5; T-box protein 5; T-框蛋白5(TBX5); 转录因子Tbx5;
背景信息:
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.