Details for Gene ERCC5

GENE NAME ERCC5
CHROMOSOME 13
ENSEMBL ID ENSG00000134899
ENTREZ ID 2073
UNIPROT ACCESSION NUMBER P28715
GO MOLECULAR FUNCTION protein homodimerization activity; single-stranded DNA binding; double-stranded DNA binding; damaged DNA binding; protein binding; bubble DNA binding; endodeoxyribonuclease activity; protein N-terminus binding; metal ion binding; RNA polymerase II complex binding; endonuclease activity; protein-containing complex binding; enzyme activator activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-6782135; hsa03420; R-HSA-5696399; R-HSA-5696400; R-HSA-6781827; R-HSA-5696398; R-HSA-5696395; R-HSA-73894
1 combination linked to ERCC5 OLI924
1 variant linked to ERCC5 ERCC5:c.2383G>A, p.Ala795Thr
1 disease linked to ERCC5 Transposition of the great arteries

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