Table 3.
Genes, Proteins and their Functions in Autosomal Dominant RP (Adapted from [6, 9] and http://www.sph.uth.tmc.edu/retnet/)
| Gene | Protein | % of all cases | Function | Other diseases/phenotypes |
|---|---|---|---|---|
| BEST1 | Bestrophin-1 | Anion channel | Recessive RP | |
| CA4 | Carbonic anhydrase IV | Arg14Trp found in 4% of Swedish controls | Zn-containing enzyme that catalyzes hydration of carbon dioxide | None |
| CRX | Cone-rod homeobox protein | 1,0 | Transcription factor | Recessive and dominant LCA, dominant CORD |
| FSCN2 | Fascin homolog 2, actin-bundling protein | Cellular structure | None | |
| GUCA1B | Guanylate cyclase activator 1B | Phototransduction | Dominant MD | |
| IMPDH1 | Inosine 5’-monophosphate dehydrogenase 1 | 2,5 | Regulation of cell growth | Dominant LCA |
| KLHL7 | Kelch-like 7 | Ubiquitin-proteasome protein degradation | None | |
| NR2E3 | Nuclear receptor subfamily 2, group E, member 3 | Transcription factor | Recessive RP; Recessive enhanced S-cone syndrome | |
| NRL | Neural retina leucine zipper protein | Tissue development and maintenance | Autosomal recessive RP | |
| PRPF3 | PRP3 pre-mRNA processing factor 3 homolog (S cerevisiae) | 1,0 | Splicing | None |
| PRPF8 | PRP8 pre-mRNA processing factor 8 homolog (S cerevisiae) | 3,0 | Splicing | None |
| PRPF31 | PRP31 pre-mRNA processing factor 31 homolog (S cerevisiae) | 8,0 | Splicing | None |
| PRPH2 (RDS) | Peripherin 2 | 5-9,5 | Photoreceptor outer segment structure | Digenic forms with ROM1 |
| RDH12 | Retinol dehydrogenase 12 | Phototransduction | Recessive LCA | |
| RHO | Rhodopsin | 26,5 | Phototransduction | Recessive RP, dominant CSNB |
| ROM1 | Retinal outer segment membrane protein 1 | Cellular structure | Digenic RP with PRPH2 (RDS) | |
| RP1 | Retinitis pigmentosa 1 | 3,5 | Tissue development and maintenance | Recessive RP |
| RP9 | RP-9 | Splicing | None | |
| SEMA4A | Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain (semiphorin) 4A | Tissue development and maintenance | Dominant CORD | |
| SNRNP200 | Small nuclear ribonucleoprotein 200kDa (U5) | Splicing | None | |
| TOPORS | Topoisomerase I binding, arginine/serine-rich | localized in the basal body of connecting cilia in photoreceptors | None |
Abbreviations: RP = Retinitis Pigmentosa; LCA = Leber congenital amaurosis; CSNB = congenital stationary night blindness; MD = macular dystrophy; CORD = cone-rod dystrophy.