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RECQL4 : ウィキペディア英語版
RECQL4

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the ''RECQL4'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9401 )

Mutations in ''RECQL4'' are associated with the autosomal recessive disease Rothmund-Thomson Syndrome. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).
''RECQL4'' gets it name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the ''BLM'' gene and Werner syndrome is associated with mutations in the ''WRN'' gene.
==External links==

* ( GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome )

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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