Aliases for RD3 Gene
External Ids for RD3 Gene
Previous HGNC Symbols for RD3 Gene
Previous GeneCards Identifiers for RD3 Gene
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
GeneCards Summary for RD3 Gene
RD3 (Retinal Degeneration 3, GUCY2D Regulator) is a Protein Coding gene. Diseases associated with RD3 include Leber Congenital Amaurosis 12 and Leber Congenital Amaurosis. An important paralog of this gene is RD3L.
UniProtKB/Swiss-Prot Summary for RD3 Gene
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 (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity).