| Entrez Gene ID |
10594 |
| Official Gene Symbol |
PRPF8 (GeneCards) |
| Full name |
pre-mRNA processing factor 8 |
| Location |
17p13.3 |
| Other ids |
Vega : OTTHUMG00000090553
MIM : 607300
HGNC : HGNC:17340
Ensembl : ENSG00000174231
|
| Other names |
PRP8,
RP13,
HPRP8,
PRPC8,
SNRNP220
|
| 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] |