Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:Bloom_syndrome_RecQ_like_helicase
gptkb:RECQL3 |
| gptkbp:associatedWith |
gptkb:Bloom_syndrome
|
| gptkbp:discoveredBy |
gptkb:David_German
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
gptkb:Bloom_syndrome_protein
|
| gptkbp:Entrez_Gene_ID |
641
|
| gptkbp:expressedIn |
gptkb:nucleus
|
| gptkbp:function |
DNA repair
DNA helicase activity genomic stability |
| gptkbp:HGNC_ID |
1058
|
| https://www.w3.org/2000/01/rdf-schema#label |
BLM gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:mutationAssociatedWith |
increased cancer risk
chromosomal instability |
| gptkbp:OMIM |
604610
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
| gptkbp:proteinFamily |
gptkb:RecQ_helicase_family
|
| gptkbp:relatedTo |
sister chromatid exchange
homologous recombination DNA double-strand break repair genomic instability syndromes |
| gptkbp:UniProtID |
P54132
|
| gptkbp:bfsParent |
gptkb:Bloom_syndrome
|
| gptkbp:bfsLayer |
5
|