DISEASES

Disease-gene associations mined from literature

Literature on RD3

RD3 [ENSP00000355969]

Protein RD3; Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment . Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP . Plays an important role for the survival of rods and cones in the retina (By similarity). ECO:0000269|PubMed:21078983, ECO:0000269|PubMed:21928830, ECO:0000269|PubMed:27471269, ECO:0000269|PubMed:29515371,

Synonyms:  RD3,  RD3p,  hRD3,  Q7Z3Z2,  Q7Z3Z2p ...

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