RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

@article{Croteau2012RAPADILINORM,
  title={RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.},
  author={Deborah L. Croteau and Marie L. Rossi and Jennifer Ross and Lale Dawut and Christopher A. Dunn and Tomasz Kulikowicz and Vilhelm A. Bohr},
  journal={Biochimica et biophysica acta},
  year={2012},
  volume={1822 11},
  pages={1727-34}
}
The RecQ family of helicases has been shown to play an important role in maintaining genomic stability. In humans, this family has five members and mutations in three of these helicases, BLM, WRN and RECQL4, are associated with disease. Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome. One of the more common mutations found in RECQL4 is the RAPADILINO mutation, c.1390+2delT which is a splice-site mutation… CONTINUE READING