Table 4.
Genes, Proteins and their Functions in Autosomal Recessive RP (Adapted from [6, 9] and http://www.sph.uth.tmc.edu/retnet/)
| Gene | Protein | % of all cases | Function | Other diseases/phenotypes |
|---|---|---|---|---|
| RP22 | Unknown | Unknown | None | |
| RP29 | Unknown | Unknown | None | |
| RP32 | Unknown | Unknown | None | |
| ABCA4 | ATP-binding cassette, subfamily A (ABC1), member 4 | 2,9 | Retinal metabolism | Recessive MD, recessive CORD |
| BEST1 | Bestrophin-1 | Anion channel | Dominant RP | |
| C2ORF71 | Chromosome 2 open reading frame 71 | Unknown | ||
| CERKL | Ceramide kinase-like protein | Tissue development and maintenance | None | |
| CNGA1 | Cyclic nucleotide gated channel alpha1 | 2,3 | Phototransduction | None |
| CNGB1 | Cyclic nucleotide gated channel beta1 | Phototransduction | None | |
| CRB1 | Crumbs homolog 1 | 6,5 | Tissue development and maintenance | Recessive LCA |
| EYS (RP25) | Eyes shut homolog | Protein of the extracellular matrix | - | |
| FAM161A | Family with sequence similarity 161 member A | Unknown, localized in the photoreceptors | - | |
| IDH3B | NAD(+)-specific isocitrate dehydrogenase 3 beta | Involved in Krebs cycle | - | |
| IMPG2 | Interphotoreceptor matrix proteoglycan 2 | Component of the retinal intercellular matrix | - | |
| LRAT | Lecithin retinol acyltransferase | Retinal metabolism | Recessive LCA | |
| MERTK | C-mer proto-oncogene tyrosine kinase | Transmembrane protein | None | |
| NR2E3 | Nuclear receptor subfamily 2, group E, member 3 | Transcription factor | Dominant RP; Recessive enhanced S-cone syndrome | |
| NRL | Neural retina leucine zipper protein | Tissue development and maintenance | Dominant RP | |
| PDE6A | Phosphodiesterase 6A, cGMP-specific, rod alpha | 4,0 | Phototransduction | None |
| PDE6B | Phosphodiesterase 6B, cGMP-specific, rod beta | 4,0 | Phototransduction | Dominant CSNB |
| PDE6G | Phosphodiesterase 6G, cGMP-specific, rod gamma | Phototransduction | ||
| PRCD | Progressive rod-cone degeneration | Unknown function | - | |
| PROM1 | Prominin 1 | Cellular structure | Recessive RP with macular degeneration | |
| RBP3 | Retinol binding protein 3 | Retinal metabolism | - | |
| RGR | Retinal G protein-coupled receptor | Retinal metabolism | Dominant choroidal sclerosis | |
| RHO | Rhodopsin | Phototransduction | Dominant RP | |
| RLBP1 | Retinaldehyde-binding protein 1 | Retinal metabolism | Recessive Bothnia dystrophy | |
| RP1 | RP-1 protein | Tissue development and maintenance | Dominant RP | |
| RPE65 | Retinal pigment epithelium-specific 65kDa protein | 2,0 | Retinal metabolism | Recessive LCA |
| SAG | S-antigen; retina and pineal gland (arrestin) | Phototransduction | Recessive Oguchi disease | |
| SPATA7 | Spermatogenesis associated protein 7 | Unknown | ||
| TTC8 | Tetratricopeptide repeat domain 8 | Cellular structure | Recessive Bardet-Biedl syndrome | |
| TULP1 | Tubby-like protein 1 | Tissue development and maintenance | Recessive LCA | |
| USH2A | Usher syndrome 2a | 10,0 | Cellular structure | Recessive Usher syndrome |
| ZNF513 | Zinc finger protein 513 | Expression factor |
Abbreviations: RP = Retinitis Pigmentosa; LCA = Leber congenital amaurosis; CSNB = congenital stationary night blindness; MD = macular dystrophy; CORD = cone-rod dystrophy; cGMP = cyclic guanosine monophosphate.