DISEASES

Disease-gene associations mined from literature

Literature associating CRX and Axenfeld-Rieger syndrome type 1

CRX [ENSP00000221996]

Cone-rod homeobox protein; Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. ; Belongs to the paired homeobox family.

Synonyms:  CRX,  A0A087WTS9,  H3BUU7,  O43186,  H3BUU7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM