GENE NAME | PRPF31 |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000105618 |
ENTREZ ID | 26121 |
UNIPROT ACCESSION NUMBER | Q8WWY3 |
GO MOLECULAR FUNCTION | U4atac snRNA binding; ribonucleoprotein complex binding; identical protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-72203; R-HSA-72172; R-HSA-72172; R-HSA-72203; R-HSA-72163; R-HSA-8953854; hsa03040; R-HSA-72163; hsa03040; R-HSA-8953854 |
1 combination linked to PRPF31 | OLI446 |
1 variant linked to PRPF31 | PRPF31:c.358_359del, p.Lys120GlufsTer4 |
1 disease linked to PRPF31 | Retinitis pigmentosa |