TEF-1 Rabbit Polyclonal Antibody

This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010], disease:Defects in TEAD1 are the cause of Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]; also known as atrophia areata (AA) or helicoidal peripapillary chorioretinal degeneration (HPCD) . SCRA is characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid., function:Binds specifically and cooperatively to the SPH and GT-IIC "enhansons" (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF) . Involved in cardiac development. Binds to the M-CAT motif., similarity:Contains 1 TEA DNA-binding domain., tissue specificity:Preferentially expressed in skeletal muscle. Lower levels in pancreas, placenta, and heart.