Gene: PRPF3
Alternate names for this Gene: HPRP3|HPRP3P|PRP3|Prp3p|RP18|SNRNP90
Gene Summary: The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18.
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.2
Description of this Gene: pre-mRNA processing factor 3
Type of Gene: protein-coding
rs56047090 in
PRPF3 gene and
Low density lipoprotein cholesterol measurement
PMID 30498476 2018 Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins.
rs121434241 in
PRPF3 gene and
Retinitis Pigmentosa 18
PMID 12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
PMID 11773002 2002 Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
PMID 17932117 2008 Our findings provide new insights into the biology of Hprp3p and suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and that these are likely linked to the RP18 phenotype.
PMID 17932117 2008 Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.