Gene Symbol | PRPF8 |
Entrez Gene ID | 10594 |
Full Name | pre-mRNA processing factor 8 |
Synonyms | HPRP8,PRP8,PRPC8,RP13,SNRNP220 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 13, 600059 (3) |