This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging.
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Protein Aliases: DKFZp686C2056; DNA helicase, RecQ-like type 3; Exonuclease WRN; RecQ protein-like 2; RecQ3; Werner syndrome ATP-dependent helicase; Werner syndrome, RecQ helicase-like
Gene Aliases: RECQ3; RECQL2; RECQL3; WRN
UniProt ID: (Human) Q14191
Entrez Gene ID: (Human) 7486