Disease-gene associations mined from literature

Literature associating GUCY2D and congenital stationary night blindness

GUCY2D [ENSP00000254854]

Retinal guanylyl cyclase 1; Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity). ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:21928830, ECO:0000269|PubMed:26100624, ECO:0000269|PubMed:30319355,; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.

Synonyms:  GUCY2D,  GUCY2Dp,  hGUCY2D,  Q02846,  Q02846p ...

Linkouts:  STRING  Pharos  UniProt  OMIM