Details for Gene PRPF31

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

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