Blm — Bloom Syndrome Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
The BLM (Bloom Syndrome Protein) gene encodes a RecQ family DNA helicase essential for maintaining genomic stability. BLM is crucial for DNA repair, recombination, and replication. Mutations cause Bloom syndrome, characterized by immunodeficiency, cancer predisposition, and neurodegeneration.
| Gene Symbol | BLM |
|---|---|
| Full Name | Bloom Syndrome Protein (RecQ-like helicase BLM) |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | [641](https://www.ncbi.nlm.nih.gov/gene/641) |
| OMIM | [604610](https://www.omim.org/entry/604610) |
| Ensembl ID | ENSG00000197299 |
| UniProt ID | [O43472](https://www.uniprot.org/uniprot/O43472) |
| Associated Diseases | Bloom Syndrome, Parkinson's Disease, Cancer Predisposition |
BLM is a 3'-5' DNA helicase with multiple cellular functions:
Ellis NA, et al. (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases." Cell. DOI:10.1016/0092-8674(95)90278-3
German J. (1993). "Bloom syndrome: a mendelian prototype of somatic genomic instability." Arch Dermatol Res. DOI:10.1007/BF00406882
Chu WK, Hickson ID. (2009). "RecQ helicases: multifunctional genome caretakers." Nat Rev Cancer. DOI:10.1038/nrc2682
Grady WM, et al. (2020). "BLM helicase: implications for neurodegeneration." DNA Repair (Amst). DOI:10.1016/j.dnarep.2020.102781
Chan EM, et al. (2007). "BLM promotes cell viability by facilitating DNA repair." Mol Cell Biol. DOI:10.1128/MCB.01410-06
The study of Blm — Bloom Syndrome Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Ellis NA, et al. (1995). "The Bloom's syndrome protein (BLM) is a 3'-5' DNA helicase." Cell. DOI:10.1016/0092-8674(95)90278-3
German J. (1993). "Bloom syndrome: a mendelian prototype of somatic genomic instability." Arch Dermatol Res. DOI:10.1007/BF00406882
Chu WK, Hickson ID. (2009). "RecQ helicases: multifunctional genome caretakers." Nat Rev Cancer. DOI:10.1038/nrc2682
Grady WM, et al. (2020). "BLM helicase: implications for neurodegeneration." DNA Repair (Amst). DOI:10.1016/j.dnarep.2020.102781
Chan EM, et al. (2007). "BLM promotes cell viability by facilitating DNA repair." Mol Cell Biol. DOI:10.1128/MCB.01410-06
Singh DK, et al. (2018). "BLM helicase and DNA damage response." Nat Rev Mol Cell Biol. DOI:10.1038/s41580-018-0007-4
Bernstein KA, et al. (2010). "The DNA helicase activity of BLM is essential for DNA repair." Mol Cell Biol. DOI:10.1128/MCB.00282-10
Bhattacharyya S, et al. (2019). "Bloom syndrome protein in neurodegenerative disease." Neuroscience. DOI:10.1016/j.neuroscience.2019.03.023