DISEASES

Disease-gene associations mined from literature

Literature associating RHO and choroideremia

RHO [ENSP00000296271]

Rhodopsin; Photoreceptor required for image-forming vision at low light intensity . Required for photoreceptor cell viability after birth . Light- induced isomerization of the chromophore 11-cis-retinal to all-trans- retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling . ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425, ECO:0000269|PubMed:7846071, ECO:0000269|PubMed:8107847,

Synonyms:  RHO,  P08100,  P08100p,  hP08100,  4ZWJ ...

Linkouts:  STRING  Pharos  UniProt  OMIM