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: Xp11.4-p11.21 |
Gene position | | 46696347 - 46741793 Map Viewer |
Gene orientation | | plus |
Gene size | | 45447 bp |
Gene sequence |
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OMIM ID | | 300757 |