PRPF8 Chromosome 17
Pre-mRNA processing factor 8
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What This Gene Does
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"JAMM/MPN+ metallopeptidase family|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000174231
Associated Conditions (10)
Retinitis pigmentosa 13
Retinal dystrophy
Retinal disorder
Retinitis pigmentosa
Choroideremia
Inborn genetic diseases
Gastric cancer
Neurodevelopmental disorder
PRPF8-related disorder
Autosomal dominant retinitis pigmentosa
Key Variants
RS1004311291
Conflicting classifications of pathogenicity
Health Risk
RS113874709
Conflicting classifications of pathogenicity
Health Risk
RS121434236
Conflicting classifications of pathogenicity
Retinitis pigmentosa 13, Retinal dystrophy, Retinitis pigmentosa 13
Health Risk
RS1360391558
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS140315637
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS141456140
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS142411659
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS142499204
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS143954665
Conflicting classifications of pathogenicity
Retinitis pigmentosa 13, Retinitis pigmentosa 13
Health Risk
RS144249808
Conflicting classifications of pathogenicity
Choroideremia, Choroideremia
Health Risk
RS144851263
Conflicting classifications of pathogenicity
Health Risk
RS1467838102
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (117)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543709653 | Health Risk | Pathogenic | — |
| RS2543709711 | Health Risk | Pathogenic | — |
| RS2543733512 | Health Risk | Pathogenic | — |
| RS2543770258 | Health Risk | Pathogenic | — |
| RS2543773918 | Health Risk | Pathogenic | — |
| RS368223523 | Health Risk | Pathogenic | — |
| RS387906971 | Health Risk | Pathogenic | Retinitis pigmentosa 13, Retinitis pigmentosa 13 |
| RS746170558 | Health Risk | Pathogenic | — |
| RS778438685 | Health Risk | Pathogenic | — |
| RS1064797215 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 13, Retinitis pigmentosa |
| RS121434239 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 13, Retinal dystrophy, Retinitis pigmentosa 13 |
| RS1555550617 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 13, Retinitis pigmentosa, Retinal dystrophy |
| RS1910994795 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1911000715 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1911391944 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Inborn genetic diseases, Retinitis pigmentosa 13 |
| RS752997229 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Autosomal dominant retinitis pigmentosa, Retinitis pigmentosa 13 |
| RS773363890 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 13, Retinitis pigmentosa 13 |