Mouse U4/U6 small nuclear ribonucleoprotein Prp3 (PRPF3) ELISA Kit | PRPF3 elisa kit
Mouse U4/U6 small nuclear ribonucleoprotein Prp3 (PRPF3) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
PRPF3: Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex. Defects in PRPF3 are the cause of retinitis pigmentosa type 18 (RP18). 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. RP18 inheritance is autosomal dominant.
Protein type: RNA splicing; RNA processing; Spliceosome
Chromosomal Location of Human Ortholog: 1q21.1
Cellular Component: nucleoplasm; spliceosome; Cajal body; U4/U6 x U5 tri-snRNP complex; cytoplasm; nuclear speck; nucleus
Molecular Function: identical protein binding; protein binding
Biological Process: assembly of spliceosomal tri-snRNP; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; RNA splicing; mRNA processing
Disease: Retinitis Pigmentosa 18