Table 5.
Genes, Proteins and their Functions in X-Linked RP (Adapted from [6, 9] and http://www.sph.uth.tmc.edu/retnet/)
| Gene | Protein | % of all cases | Function | Other diseases/phenotypes |
|---|---|---|---|---|
| RP2 | Retinitis pigmentosa 2 protein | 15,1 | Human cofactor C is involved in beta-tubulin folding | None |
| RP6 | Unknown | Unknown | None | |
| RP23 | Unknown | Unknown | None | |
| RP24 | Unknown | Unknown | None | |
| RP34 | Unknown | Tissue development and maintenance | None | |
| RPGR | Retinitis pigmentosa GTPase regulator | 74,2 | Intraflagellar transport | X-linked COD, X-linked CSNB |
Abbreviations: RP = Retinitis Pigmentosa; COD = cone dystrophy; CSNB = congenital stationary night blindness; GTPase = guanosine triphosphatase.