Werner syndrome helicase

From WikiMD's medical encyclopedia

Werner syndrome helicase is a protein that in humans is encoded by the WRN gene. The protein is involved in the maintenance of genome stability. Mutations in this gene are associated with Werner syndrome, a rare autosomal recessive disorder characterized by premature aging.

Function

The Werner syndrome helicase protein is a member of the RecQ helicase family. RecQ helicases are involved in the maintenance of chromosome stability. The Werner syndrome helicase protein has intrinsic 3' to 5' exonuclease activity, and is involved in DNA repair.

Clinical significance

Mutations in the WRN gene are associated with Werner syndrome, a rare autosomal recessive disorder characterized by premature aging. The syndrome is named after the German scientist Otto Werner, who first described the condition in 1904. Symptoms of Werner syndrome include early onset of aging, atherosclerosis, cataracts, osteoporosis, and cancer.

See also

References


External links

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