Pre-Mrna-Processing-Splicing Factor 8 (PRPF8) ELISA Kit for Human

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]

PRPF8: Central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. Interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes. Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP13 inheritance is autosomal dominant.

Protein type: RNA splicing; RNA-binding; Spliceosome

Chromosomal Location of Human Ortholog: 17p13.3

Cellular Component: catalytic step 2 spliceosome; membrane; nuclear speck; nucleoplasm; nucleus; snRNP U5; U4/U6 x U5 tri-snRNP complex

Molecular Function: protein binding; RNA binding; second spliceosomal transesterification activity; U1 snRNA binding; U2 snRNA binding; U5 snRNA binding; U6 snRNA binding

Biological Process: cellular response to tumor necrosis factor; mRNA processing; mRNA splicing, via spliceosome; RNA splicing; RNA splicing, via transesterification reactions; spliceosomal tri-snRNP complex assembly

Disease: Retinitis Pigmentosa 13