Table 1.
Genetic loci associated with dominant cone dystrophies. Column 1, chromosomal localization. Column 2, disease nomenclature according to RetNet. Column 3, Online Mendelian Inheritance in Man (OMIM) nomenclature. Column 4, gene symbol. Column 5, function of the gene product. Column 6, references.
Locus | Symbol | OMIM | Gene | Function | Reference |
---|---|---|---|---|---|
6p21.1 | CORD3 | 602093 | GUCA1A | Guanylate cyclase activator | Review: (Baehr & Palczewski, 2007) |
6q13 | CORD7 | 603649 | RIMS1 | Function unknown; ribbon synapse-associated | Johnson et al., 2003) |
17p13.1 | CORD6 | 601777 | GUCY2D | Photoreceptor guanylate cyclase | (Perrault et al., 1996); review: (Baehr & Palczewski, 2007) |
17p13.2 | CORD5 | 600977 | PITPNM3 | involved in photoreceptor membrane renewal; Drosophila homolog is retinal degeneration B (rdgB) | (Kohn et al., 2007) |
17q11.2 | 604011 | UNC119 | Function unknown; localizes to rod and cone cytoplasm and ribbon synapses | (Kobayashi et al., 2000) | |
18q21.1-q21.3 | CORD1 | 600624 | QRX | Transcription factor | (Wang et al., 2004) |
19q13.3 | CORD2 | 120970 | CRX | Transcription factor | (Swain et al., 1997) |