RD3, Official Symbol RD3provided by HGNC Official Full Name RD3 regulator of GUCY2Dprovided by HGNC Primary source HGNC:HGNC:19689 See related Ensembl:ENSG00000198570 MIM:180040; AllianceGenome:HGNC:19689 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCA12; C1orf36 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all