TEAD1, TCF13, TEF1, Transcriptional enhancer factor TEF-1, NTEF-1, Protein GT-IIC, TEA domain family member 1, TEAD-1, Transcription factor 13, TCF-13
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 Sveinssons 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.,
