Disease-gene associations mined from literature

Literature associating RHO and Leber congenital amaurosis 10

RHO [ENSP00000296271]

Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

Synonyms:  RHO,  P08100,  OPN2,  P08100p,  hP08100 ...

Linkouts:  STRING  Pharos  UniProt  OMIM