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. ,
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