WebApr 15, 2011 · BLM helicase is a DNA unwinding enzyme critical in DNA repair via the homologous recombination (HR) pathway. Mutations of the BLM gene result in diminished BLM helicase activity and can cause … WebJan 26, 2024 · Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder that leads to myriad negative health impacts including a predisposition …
The Bloom
WebBloom's syndrome is a rare genetic disorder characterized by genomic instability and a very high incidence of cancer. Affected individuals display a pleiotropic array of symptoms, including prenatal and postnatal growth retardation, sunlight sensitivity, impaired fertility, and immunodeficiency. Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete … habersham county water authority
Nature Communications: Bloom helicase mediates formation of …
WebBloom syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and CID. BS results from a mutation in the BLM gene, which encodes a helicase enzyme that resolves DNA replication forks that have stalled due to DNA damage. Spontaneous chromosomal anomalies appear in BS lymphoblasts and other cell types … WebClinVar archives and aggregates information about relationships among variation and human health. WebBloom syndrome is caused by loss of function mutations in the BLM gene (OMIM #604610), which encodes a 3′ to 5′ DNA helicase belonging to the evolutionarily conserved RecQ … bradford white water heater conversion kit