Table II.
Known PSC complex disease proteins
| Protein/gene | Diseasesa | Protein locationb | Detected | Ref. |
|---|---|---|---|---|
| OS | ||||
| ABCA4 | CD, MD, RP | OS | Yes | 66 |
| AIPL1 | CD, LCA | ONL, IS, OS | Yes | 67 |
| CNGA1 | RP | OS | Yes | 68 |
| CNGA3 | O | Cone OS | Yes | 69 |
| CNGB1 | RP | OS | Yes | 68 |
| CNGB3 | O | Cone OS | No | 70 |
| GNAT1 | CSNB | OS | Yes | 71 |
| GNAT2 | O | Cone OS | Yes | 72 |
| GRK1 | CSNB | OS | Yes | 73 |
| GUCA1A | CD | OS | Yes | 74 |
| GUCA1B | MD, RP | IS, OS | Yes | 75 |
| GUCY2D | CD, LCA | OS | Yes | 76 |
| OPN1MW | O | Cone OS | Yes | 77 |
| OPN1SW | O | Cone OS | Yes | 77 |
| PCDH15 | USH | OS | Yes | 53 |
| PDE6A | RP | OS | Yes | 78 |
| PDE6B | CSNB, RP | OS | Yes | 78 |
| PGK1 | O | OS | Yes | 79 |
| PROM1 | O | OS | Yes | 80 |
| R9AP | O | OS | Yes | 81 |
| RDS | MD, RP | OS | Yes | 82 |
| RGS9 | O | OS | Yes | 83 |
| RHO | CSNB, RP | OS | Yes | |
| ROM1 | RP | OS | Yes | 84 |
| RS1 | O | IS, OS/matrix, Müller cells | Yes | 85 |
| SAG | CSNB, RP | OS | Yes | 86 |
| USH1C | USH | OS, IS, synapse | No | 87 |
| PSC complex-cytoskeleton | ||||
| CEP290 | LCA, SYND | TZ | Yes | 88 |
| IQCB1 | SLSN | TZ | Yes | 89 |
| GPR98 | USH | TZ | Yes | 87 |
| MYO7A | USH | TZ, RPE | Yes | 55 |
| NPHP4 | SLSN | TZ | Yes | 90 |
| RP1 | RP | Axoneme | Yes | 25 |
| RPGR | CD, CSNB, RP | TZ | Yes | 91 |
| RPGRIP1 | LCA | TZ, axoneme | Yes | 91 |
| TTC8 | BBS | TZ, centrosome, BB | Yes | 92 |
| TULP1 | LCA, RP | IS, TZ | Yes | 93 |
| USH2A | RP, USH | TZ, synapse | Yes | 87 |
a
Diseases: CD, cone dystrophy; CSNB, congenital stationary night blindness; MD, macular degeneration; O, other; SLSN, Senior-Loken syndrome; SYND, syndromic; USH, Usher syndrome.
b
Locations: BB, basal body; NR, not reported; TZ, transition zone.