DISEASES

Disease-gene associations mined from literature

Literature associating CRX and cone-rod dystrophy 8

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,  A4GUB7,  CRX-001,  CRX-004,  CRX-005 ...

Linkouts:  STRING  Pharos  UniProt  OMIM