RECQL4

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

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. In addition to the Rothmund–Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller–Gerold syndromes. There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in 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 its 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.