Gene information for RP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 6102 |
| Official gene symbol | RP2 |
| Full name | retinitis pigmentosa 2 (X-linked recessive) |
| Aliases | ,DELXp11.3,KIAA0215,NME10,TBCCD2,XRP2, |
| Gene summary | The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq] |
| Location | Chromosome: X Locus: |
| Gene position | 46696347 - 46741793 Map Viewer |
| OMIM ID | 300757 |
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