RecQ
RecQ is a type of DNA helicase that is found in a variety of organisms, from bacteria to humans. These enzymes are essential for maintaining the integrity of the genome, and mutations in RecQ helicases can lead to a variety of genetic disorders.
Function[edit | edit source]
RecQ helicases are involved in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. They function by unwinding the double helix of DNA, allowing other enzymes to access the genetic material.
In humans, there are five known RecQ helicases: WRN, BLM, RECQL, RECQL4, and RECQL5. Mutations in these genes can lead to a variety of genetic disorders, including Werner syndrome, Bloom syndrome, and Rothmund-Thomson syndrome.
Clinical significance[edit | edit source]
Mutations in RecQ helicases can lead to a variety of genetic disorders. For example, mutations in the WRN gene can lead to Werner syndrome, a disorder characterized by premature aging. Similarly, mutations in the BLM gene can lead to Bloom syndrome, a disorder characterized by short stature, sun-sensitive skin changes, and an increased risk of cancer.
See also[edit | edit source]
References[edit | edit source]
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