TABLE 2.
Features of selected loci responsible for IRDs.
| Gene | IRD phenotype | Chromosome location | Gene length (bp) | Coding sequence (bp) | Encoded protein | Protein function | Genbank accession |
|---|---|---|---|---|---|---|---|
| ABCA4 | Stargardt disease | 1 | 135,313 | 6,819 | ATP binding cassette subfamily A member 4 | Photoreceptor transport of all-trans-retinal aldehyde | NG_009073 |
| BEST | Best disease | 11 | 21,580 | 1,755 | Bestrophin 1 | Epithelial chloride ion channel | NG_009033 |
| CEP290 | LCA, RP | 12 | 100,204 | 7,437 | Centrosomal protein 290 | Cilium formation | NG_008417 |
| CHM | Choroideremia | X | 193,383 | 1,959 | CHM Rab escort protein | Rab GTPase | NG_009874 |
| CYP4V2 | Bietti crystalline dystrophy | 4 | 28,939 | 1,575 | Cytochrome P450 family 4 subfamily V member 2 | Fatty acid precursor metabolism | NG_007,965 |
| EYS | RP | 6 | 1,994,246 | 9,432 | Eyes shut homolog | Photoreceptor-specific, secreted matrix protein | NG_023443 |
| RHO | RP, stationary night blindness | 3 | 13,706 | 1,044 | Rhodopsin | Rod-specific phototransducer | NG_009115 |
| RPE65 | LCA, RP | 1 | 28,136 | 1,599 | Retinoid isomerohydrolase RPE65 | Isomerization step of 11-cis retinal synthesis | NG_008472 |
| USH2A | RP, Usher syndrome II | 1 | 807,558 | 15,606 | Usherin | Photoreceptor and auditory hair cell maintenance | NG_009497 |