PRPF31, PRP31, U4/U6 small nuclear ribonucleoprotein Prp31, Pre-mRNA-processing factor 31, Serologically defined breast cancer antigen NY-BR-99, U4/U6 snRNP 61 kDa protein, Protein 61K, hPrp31
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009],disease:Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. 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. RP11 inheritance is autosomal dominant.,function:Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.,similarity:Contains 1 Nop domain.,subcellular location:Predominantly found in speckles and in Cajal bodies.,subunit:Part of a tri-snRNP complex. Interacts with C20orf14/U5 snRNP-associated 102 kDa protein.,tissue specificity:Ubiquitously expressed.,
