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WRNWerner syndrome, RecQ helicase-like |
Known also as: RECQ3; RECQL2; RECQL3; DKFZp686C2056;
| NCBI Gene ID: | 7486 |
| NCBI Ensembl Id: | ENSG00000165392 |
| MIM Id: (from NCBI OMIM database) | 604611 |
| Species: | Homo sapiens |
| 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. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA | The Werner syndrome protein is a DNA helicase. | Nat Genet Sept. 1, 1997 |
| Brosh RM Jr, Orren DK, Nehlin JO, Ravn PH, Kenny MK, Machwe A, Bohr VA | Functional and physical interaction between WRN helicase and human replication protein A. | J Biol Chem June 25, 1999 |
| Cooper MP, Machwe A, Orren DK, Brosh RM, Ramsden D, Bohr VA | Ku complex interacts with and stimulates the Werner protein. | Genes Dev April 15, 2000 |
| Saydam N, Kanagaraj R, Dietschy T, Garcia PL, Pena-Diaz J, Shevelev I, Stagljar I, Janscak P | Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors. | Nucleic Acids Res Jan. 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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