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 upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the helicase family. RecQ subfamily.,similarity:Contains 1 3'-5' exonuclease domain.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,similarity:Contains 1 HRDC domain.,subunit:Interacts via its N-terminal domain with WRNIP1 (By similarity). Interacts with EXO1.,
展开内容