BLM

The BLM gene encodes the Bloom syndrome protein (BLM), a RecQ family DNA helicase also known as RecQ helicase BLM. It plays a key role in maintaining genomic stability by unwinding double-stranded DNA during homologous recombination and replication fork repair, resolving secondary structures to prevent aberrant genetic rearrangements.
Mutations in BLM cause Bloom syndrome, an autosomal recessive disorder characterized by growth retardation, immunodeficiency, and high cancer risk. Current research explores synthetic lethality strategies—such as PARP inhibitors—to target BLM-deficient cancer cells, leveraging their impaired DNA repair capacity for selective therapeutic intervention.