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Beschreibung

RNA-binding protein FUS (UniProt: also known as 75 kDa DNA-pairing protein, Oncogene FUS, Oncogene TLS, POMp75, Translocated in liposarcoma protein) is encoded by the FUS (also known as TLS) gene (Gene ID: 2521) in human. Fused in sarcoma/translocated in liposarcoma FUS/TLS is a multi-functional nuclear protein that binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in super helical double-stranded DNA. It is involved in a variety of cellular functions including transcription, protein translation, RNA splicing, and transport and may play a role in maintenance of genomic integrity. A chromosomal aberration involving FUS is shown to cause of acute myeloid leukemia (AML). Mutations in FUS gene have been linked to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia that affects upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. (Ref.: Lagier-Tourenne, C., et al. (2010). Hum. Mol. Genet. 19(1), R46-R64).