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Genes (12)
Species:
human : 12 | |
| Human | PRPF31 | 26121 | pre-mRNA processing factor 31 | Deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa Two missense mutations in PRPF31 (A194E and A216P) linked to autosomal dominant retinitis pigmentosa substantially hinder translocation of PRPF31 into the nucleus Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing Mutations in PRPF31 causing adRP (autosomal dominant retinitis pigmentosa) were present in nearly 5% of a mixed U.K. population | | Human | FSCN2 | 25794 | fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) | The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD (autosomal dominant macular degeneration) | | Human | PRPF8 | 10594 | pre-mRNA processing factor 8 | Mutations in PRPC8 is associated with autosomal dominant retinitis pigmentosa The severe form of autosomal dominant retinitis pigmentosa (adRP) was caused by the PRPF8 H2309R variant, whereas the IVS41-4G-->A variant was benign | | Human | TOPORS | 10210 | topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase | Mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31), is reported Point mutations and small insertions or deletions in TOPORS cause approximately 1% of autosomal dominant retinitis pigmentosa | | Human | NR2E3 | 10002 | nuclear receptor subfamily 2, group E, member 3 | We describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for autosomal dominant retinitis pigmentosa Gly56Arg mutation in NR2E3 accounts for approximately 1%-2% of adRP, making it one of the more common single mutations in autosomal dominant retinitis pigmentosa | | Human | PRPF3 | 9129 | pre-mRNA processing factor 3 | Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa | | Human | RP1 | 6101 | retinitis pigmentosa 1 (autosomal dominant) | N985Y mutation segregated with the phenotype from 1 Chinese family with mild and late-onset autosomal dominant retinitis pigmentosa (ADRP) a finding that has not been documented in other races | | Human | RP9 | 6100 | retinitis pigmentosa 9 (autosomal dominant) | Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa | | Human | RHO | 6010 | rhodopsin | dominant negative effect on conformational maturation that may underlie the dominant inheritance of autosomal dominant retinitis pigmentosa Frequency and pattern of rhodopsin point mutations in Chinese patients with autosomal dominant retinitis pigmentosa Rhodopsin mutations result in autosomal dominant retinitis pigmentosa (ADRP), the most frequent being Proline-23 substitution by histidine (RhoP23H) A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system | | Human | IMPDH1 | 3614 | IMP (inosine 5'-monophosphate) dehydrogenase 1 | A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa | | Human | GNB1 | 2782 | guanine nucleotide binding protein (G protein), beta polypeptide 1 | No likely pathogenic GNB1 mutations have been found in any of 185 unrelated patients with autosomal dominant retinitis pigmentosa | | Human | PLIN2 | 123 | perilipin 2 | Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP) |
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