Transcriptional repressor involved in developmental processes.Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes. Probably plays a role in limb pattern formation.
基因名
TBX3
蛋白名
T-box transcription factor TBX3
亚细胞定位
Nucleus (Potential).
组织特异性
Widely expressed.
疾病
Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.
相似性
Contains 1 T-box DNA-binding domain.
功能
Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation.