DISEASES

Disease-gene associations mined from literature

Literature associating ATF6 and cone-rod dystrophy

ATF6 [ENSP00000356919]

Cyclic AMP-dependent transcription factor ATF-6 alpha; Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'- ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina; Belongs to the bZIP family. ATF subfamily.

Synonyms:  ATF6,  ATF6p,  hATF6,  P18850,  P18850p ...

Linkouts:  STRING  Pharos  UniProt  OMIM