BLM Gene

The BLM gene (BLM stands for Bloom Syndrome RecQ Like Helicase) is a protein-coding gene located on chromosome 15q26.

ATP-dependent DNA helicasethat unwinds single- and double-stranded DNA in the 3'-5' direction (Karow JK et al. 1997).

Involved in DNA replication and repair (Langland G et al 2002).

Involved in the resection of the 5'-end of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2, which mediates cleavage of 5'-ssDNA.

Negatively regulates sister chromatid exchange (SCE) (Newman JA et al. 2015).

Stimulates DNA 4-way node migration and DNA Holliday node resolution. Binds single-stranded DNA (ssDNA), bifurcated duplex DNA, and DNA-Holliday junction ((Newman JA et al. 2015).

Diseases associated with BLM include:

• Bloom syndrome
• and
• Bap1 tumor predisposition syndrome.

Bloom syndrome is an autosomal recessive inherited disorder characterized by growth failure, microcephaly, and immunodeficiency, among other features. It is caused by a homozygous or compound heterozygous mutation in the BLM gene.