基因名称(Gene Name)
WRN RECQ3 RECQL2
免疫原
Synthesized peptide derived from human WRN AA range: 1080-1160
特异性
This antibody detects endogenous levels of Human WRN
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Werner syndrome ATP-dependent helicase (EC 3.6.4.12;DNA helicase, RecQ-like type 3;RecQ3;Exonuclease WRN;EC 3.1.-.-;RecQ protein-like 2)
背景
Werner syndrome RecQ like helicase(WRN) 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, Jul 2008],
功能
disease:Defects in WRN are a cause of Werner syndrome (WRN) [MIM:277700]. WRN is a rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. Currently all known WS mutations produces prematurely terminated proteins.,disease:Defects in WRN may be a cause of colorectal cancer (CRC) [MIM:114500].,function:Essential for the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity. May be involved in the control of genomic stability.,online information:WRN mutation db (Warner disease),PTM:Phosphorylated by PRKDC. Phosphorylated u
