WRN - Werner syndrome ATP-dependent helicase - human protein (Medical)
 
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WRN »  Werner syndrome ATP-dependent helicase   [ EC 3.6.4.12 ]
 
Protein also known as:  DNA helicase, RecQ-like type 3 (RecQ3).
Gene name:  WRN
Family name: Helicase » RecQ
Entry whose protein(s) existence is based on evidence at protein level
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1 215 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Werner syndrome (WRN) [MIM:277700]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. The disease may be caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Werner syndrome  902  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 7486
MIM: 114500
MIM: 277700
PharmGKB: PA367
Polymorphism databases
DMDM: 6136393
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.