PRPF4 Chromosome 9
Pre-mRNA splicing tri-snRNP complex factor PRPF4
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What This Gene Does
The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"WD repeat domain containing|U4/U6 small nuclear ribonucleoprotein particle"
Locus Type
gene with protein product
Location
9q32
Ensembl
ENSG00000136875
Associated Conditions (2)
Retinitis pigmentosa 70
Retinal dystrophy
Key Variants
RS141207203
Conflicting classifications of pathogenicity
Retinitis pigmentosa 70, Retinitis pigmentosa 70
Health Risk
RS563764064
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS759807240
Conflicting classifications of pathogenicity
Health Risk
RS587777599
Likely pathogenic
Retinitis pigmentosa 70, Retinal dystrophy, Retinitis pigmentosa 70
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141207203 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 70, Retinitis pigmentosa 70 |
| RS563764064 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS759807240 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777599 | Health Risk | Likely pathogenic | Retinitis pigmentosa 70, Retinal dystrophy, Retinitis pigmentosa 70 |