Details for Gene RBBP8

GENE NAME RBBP8
CHROMOSOME 18
ENSEMBL ID ENSG00000101773
ENTREZ ID 5932
UNIPROT ACCESSION NUMBER Q99708
GO MOLECULAR FUNCTION flap-structured DNA binding; single-stranded DNA binding; damaged DNA binding; protein binding; double-stranded DNA binding; Y-form DNA binding; identical protein binding; transcription corepressor activity; single-stranded DNA endodeoxyribonuclease activity; double-strand/single-strand DNA junction binding; RNA polymerase II-specific DNA-binding transcription factor binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-6804756; R-HSA-5693579; R-HSA-69473; R-HSA-73894; hsa03440; R-HSA-1474165; R-HSA-5693568; R-HSA-5685939; R-HSA-69620; R-HSA-5693537; R-HSA-5693567; R-HSA-5693538; R-HSA-5693607; R-HSA-73857; R-HSA-5633007; R-HSA-5693554; R-HSA-5693616; R-HSA-1500620; R-HSA-5685938; R-HSA-5693532; R-HSA-74160; R-HSA-912446; R-HSA-212436; R-HSA-3700989; R-HSA-5685942; hsa03440; R-HSA-1640170; R-HSA-69481; R-HSA-8953750
2 combinations linked to RBBP8 OLI1049; OLI1056
1 variant linked to RBBP8 RBBP8:c.2516G>A, p.Arg839Gln
1 disease linked to RBBP8 Primary ovarian failure

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