disease:Genetic variations in T are associated with susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are common congenital malformations. Spina bifida, which results from malformations in the caudal region of the neural tube, is compatible with life but associated with significant morbidity, including lower limb paralysis.,function:Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site.,similarity:Contains 1 T-box DNA-binding domain.,subunit:Monomer.,
Nucleus .
Detected in testis, but not in other, normal tissues. Detected in lung tumors (at protein level).
下载说明书
