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
Gene: RILP
Alternate names for this Gene: PP10141
Gene Summary: This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.3
Description of this Gene: Rab interacting lysosomal protein
Type of Gene: protein-coding
rs121434240 in
PRPF8;RILP gene and
Retinitis Pigmentosa 13
PMID 17317632 2007 Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
PMID 12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
PMID 11468273 2001 Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
PMID 11910553 2002 Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).