RECQL4

ATP-dependent DNA helicase Q4 is an is_associated_with::enzyme that in humans is encoded by the RECQL4 is_associated_with::gene.

Mutations in RECQL4 are associated with the autosomal recessive disease is_associated_with::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 is_associated_with::osteosarcoma (malignant tumor of the bone). RECQL4 gets it name from being homologous (sharing sequence) with other members of the is_associated_with::RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. is_associated_with::Bloom syndrome is associated with mutations in the BLM gene and is_associated_with::Werner syndrome is associated with mutations in the WRN gene.