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RECQL
RecQ protein-like (DNA helicase Q1-like)
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On chromosome: 12p12
Known also as: RecQ1; RECQL1;
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq]
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Gene sequence:
Proteins coded by this gene:
References:
Authors
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Title
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Journal
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Puranam KL, Blackshear PJ
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Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ.
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J Biol Chem
Nov. 25, 1994
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Kume T, Jiang H, Topczewska JM, Hogan BL
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The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis.
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Genes Dev
Sept. 15, 2001
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Doherty KM, Sharma S, Uzdilla LA, Wilson TM, Cui S, Vindigni A, Brosh RM Jr
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RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination.
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J Biol Chem
July 1, 2005
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Xu X, Liu Y
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Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.
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EMBO J
March 4, 2009
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Last modification of this entry: Oct. 6, 2010.
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