Bloom syndrome protein

Bloom's Syndrome protein ( RecQ2 ) is an enzyme that is present in many living things in the nucleus. It is part of the mechanism that detects DNA damage and DNA repair initiates. Mutations in the BLM gene are the cause of the Bloom 's syndrome, a rare genetic disease. RecQ2 belongs to the DEAD -box helicases and binds to G -quadruplexes.

In response to DNA damage RecQ2 is phosphorylated by specific protein complexes. It is itself part of the BRCA1 -associated genome surveillance complex ( BASC ) and the RAD50 - MRE11 - NBS1 complex. RecQ2 interacts with RMI1. All the functions of the protein is subject to instantaneous research.

Human Genome Organisation Organism Bloom syndrome G-Quadruplex Digital Object Identifier PubMed Central
6914
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