Table 7.
Genes and proteins leading to retinal dystrophies involved in retinal development, mRNA splicing and other functions
| Gene | Location | Protein | Function | % | Type of RP |
|---|---|---|---|---|---|
| KCNV2 | 9p24.2 | potasium channel subfamily V member 2 | Ion interchange | arCOD | |
| IMPDH1 | 7q32.1 | inosine monophosphate dehydrogenase 1 | Nucleotide biosynthesis | 2.5 | adRP, adLCA |
| CRX | 19q13.32 | cone-rod otx-like photoreceptor homeobox transcription factor | Retinal development | 1 | adRP, adLCA, arLCA, adCORD |
| NRL | 14q11.2 | neural retina leucine zipper | Retinal development | 0.7 | adRP, arRP |
| NR2E3 | 15q23 | nuclear receptor subfamily 2 group E3 | Retinal development | arRP | |
| EYS | 6q12 | eyes shut/spacemaker (Drosophila) homolog | Unknown | arRP | |
| HPRP3 | 1q21.3 | human homolog of yeast pre-mRNA splicing factor 3 | mRNA splicing | 1 | adRP |
| PRPF8 | 17p13.3 | human homolog of yeast pre-mRNA splicing factor C8 | mRNA splicing | 3 | adRP |
| PRPF31 | 19q13.42 | human homolog of yeast pre-mRNA splicing factor 31 | mRNA splicing | 8 | adRP |
| PROM1 | 4p15.32 | Prominin | Photoreceptor discs development | adCORD, adMD | |
| SNRNP200 | 2q11.2 | small nuclear ribonucleoprotein 200kDa | mRNA splicing | adRP | |
| KLHL7 | 7p15.3 | kelch-like 7 protein (Drosophila) | Protein degradation | adRP | |
| TOPORS | 9p21.1 | topoisomerase I binding arginine/serine rich protein | mRNA splicing | 1 | adRP |
| RD3 | 1q32.3 | protein: RD3 protein | Unknown | arLCA | |
| RAX2 | 19p13.3 | retina and anterior neural fold homeobox 2 transcription factor | Retina development | CORD | |
| SEMA4A | 1q22 | Semaphorin 4A | Neuronal development | adCORD | |
| RIMS1 | 6p13 | regulating synaptic membrane exocytosis protein | Ribbon synapse trafficking | adCORD | |
| CACNA2D4 | 12p13.33 | calcium channel, voltage-dependent, alpha 2/delta subunit 4 | Ribbon synapse trafficking | arCOD | |
| CERKL | 2q31.3 | ceramide kinase-like protein | arRP | ||
| AIPL1 | 17q13.2 | arylhydrocarbon-interacting receptor protein-like 1 | Chaperone | 3.4 | arLCA, adCORD |
| PAP1 | 7p14.3 | PIM-1 kinase | mRNA splicing | adRP | |
| ADAM9 | 8p11.23 | ADAM metallopeptidase domain 9 (meltrin gamma) protein | Structural: adhesion molecule | CORD | |
| CNNM4 | 2q11.2 | cyclin M4 | Neural retina function | Jalili synd. | |
| TRPM1 | 15q13.3 | transient receptor potential cation channel, subfamily M, member 1 (melastatin) | Light-evoked response of the inner retina | adCSNB | |
| SPATA7 | 14q31.3 | spermatogenesis associated protein 7 | Unknown | arLCA, arRP | |
| TSPAN12 | 7q31.31 | tetraspanin 12 | Retinal development | FEVR | |
| OTX2 | 14q22.3 | orthodenticle homeobox 2 protein | Retinal development | adLCA | |
| ASCC3L1 | 2q11.2 | activating signal cointegrator 1 complex subunit 3-like 1 | Unknown | adRP | |
| CABP4 | 11q13.1 | calcium binding protein 4 | Synapsis function | arCORD | |
| USH3A | 3q21-q25 | clarin-1 | Ribbon synapse trafficking | USH |
adCORD: autosomal-dominant cone and rod dystrophy; adCSNB: autosomal dominant congenital stationary night blindness adLCA: autosomal dominant Leber's congenital amaurosis; adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arCOD: autosomal recessive cone dystrophy; arCORD: autosomal-recessive cone and rod dystrophy; arLCA: autosomal-recessive Leber's congenital amaurosis; arRP: autosomal-recessive retinitis pigmentosa; CORD: cone and rod dystrophy; FEVR: familial exhudative vitreoretinopathy; RP: retinitis pigmentosa; USH: Usher syndrome;