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 |