Gene: PRPF8

Alternate names for this Gene: HPRP8|PRP8|PRPC8|RP13|SNRNP220

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: pre-mRNA processing factor 8

Type of Gene: protein-coding

rs62089970 in PRPF8 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs11867415 in PRPF8 gene and Ischemic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs1555550617 in PRPF8 gene and Retinitis Pigmentosa 13 PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.