| GENE NAME | BLM |
| CHROMOSOME | 15 |
| ENSEMBL ID | ENSG00000197299 |
| ENTREZ ID | 641 |
| UNIPROT ACCESSION NUMBER | P54132 |
| GO MOLECULAR FUNCTION | protein homodimerization activity; telomeric D-loop binding; bubble DNA binding; 3'-5' DNA helicase activity; helicase activity; single-stranded DNA binding; protein binding; identical protein binding; Y-form DNA binding; forked DNA-dependent helicase activity; p53 binding; DNA binding; four-way junction helicase activity; DNA helicase activity; ATP-dependent activity, acting on DNA; telomeric G-quadruplex DNA binding; DNA/DNA annealing activity; ATP hydrolysis activity; 8-hydroxy-2'-deoxyguanosine DNA binding; four-way junction DNA binding; G-quadruplex DNA binding; ATP binding; zinc ion binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-174414; R-HSA-5693538; R-HSA-73857; R-HSA-174417; R-HSA-6804756; R-HSA-157579; R-HSA-5693579; R-HSA-69473; R-HSA-73894; R-HSA-3108214; R-HSA-392499; R-HSA-1474165; R-HSA-5693568; R-HSA-212436; R-HSA-3700989; R-HSA-5685942; hsa03440; R-HSA-1640170; R-HSA-2990846; R-HSA-3108232; R-HSA-69481; R-HSA-73886; R-HSA-5693607; R-HSA-5633007; R-HSA-5693554; R-HSA-5693616; R-HSA-1500620; R-HSA-5685938; R-HSA-5693532; hsa03460; R-HSA-74160; R-HSA-912446; R-HSA-180786; R-HSA-597592; R-HSA-69620; R-HSA-5693537; R-HSA-5693567 |
| 1 combination linked to BLM | OLI1040 |
| 1 variant linked to BLM | BLM:c.2333C>G, p.Ser778Cys |
| 1 disease linked to BLM | Primary ovarian failure |