Details for Gene GEN1

GENE NAME GEN1
CHROMOSOME 2
ENSEMBL ID ENSG00000178295
ENTREZ ID 348654
UNIPROT ACCESSION NUMBER Q17RS7
GO MOLECULAR FUNCTION crossover junction endodeoxyribonuclease activity; nuclease activity; magnesium ion binding; catalytic activity; 5'-flap endonuclease activity; four-way junction DNA binding; protein homodimerization activity; DNA binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-5693568; R-HSA-73894; R-HSA-5693532; R-HSA-5693538; R-HSA-5693567; R-HSA-5693537; R-HSA-5685942
2 combinations linked to GEN1 OLI028; OLI027
2 variants linked to GEN1 Copy Number Variant deletion on chromosome 2 of the 2p24.2 in the gene GEN1; GEN1:c.181T>A, p.Ser61Thr
1 disease linked to GEN1 Müllerian aplasia

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