DDX11 gene

DEAD/H-box helicase 11

The DDX11 gene provides instructions for making an enzyme called ChlR1, which functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule so it can be copied (replicated) in preparation for cell division. ChlR1 is also involved in repairing any mistakes that are made when DNA is copied. In addition, ChlR1 is involved in other processes leading up to cell division. After replication, the DNA from each chromosome is arranged into two identical structures, called sister chromatids, which the ChlR1 enzyme helps to keep together until they are ready to separate into individual cells. This enzyme also ensures proper separation of chromatids during cell division. By helping repair mistakes in DNA and ensuring proper DNA replication, the ChlR1 enzyme plays a role in maintaining the stability of a cell's genetic information.

At least three mutations in the DDX11 gene have been found to cause Warsaw breakage syndrome. This condition causes multiple abnormalities that may include impaired growth, distinctive facial features, hearing loss, and heart malformations. The mutations that cause Warsaw breakage syndrome severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.

Cytogenetic Location: 12p11.21, which is the short (p) arm of chromosome 12 at position 11.21

Molecular Location: base pairs 31,073,574 to 31,104,799 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p11.21, which is the short (p) arm of chromosome 12 at position 11.21
  • CHL1-related helicase gene-1
  • CHL1-related protein 1
  • CHLR1
  • DDX11_HUMAN
  • DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)
  • DEAD/H box protein 11
  • hCHLR1
  • keratinocyte growth factor-regulated gene 2 protein
  • KRG-2
  • KRG2
  • probable ATP-dependent RNA helicase DDX11