| retinitis pigmentosa 2 (X-linked recessive) | OKDB#: 5223 |
| Symbols: | RP2 | Species: | human | ||
| Synonyms: | XRP2, NME10, TBCCD2, NM23-H10, DELXp11.3 | Locus: | Xp11.3 in Homo sapiens |
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| General Comment | NCBI 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, Jul 2008] | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | July 6, 2015, 2:37 p.m. | by: |
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| last update: | July 6, 2015, 2:37 p.m. | by: | system email: |
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