DDX11

DDX11 is a gene that encodes a DNA helicase protein in humans. This protein is involved in the maintenance of genome stability, and mutations in this gene have been associated with Warsaw breakage syndrome, a rare developmental disorder.

Function

The DDX11 gene provides instructions for making a protein that is involved in several critical cellular activities. This protein helps to untangle and unwind DNA, a process that is necessary for DNA replication and repair. The DDX11 protein also plays a role in the process of chromosome segregation, which ensures that each new cell gets one copy of each chromosome during cell division.

Clinical significance

Mutations in the DDX11 gene can cause Warsaw breakage syndrome, a rare disorder characterized by growth retardation, microcephaly, and congenital abnormalities. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

See also

• DNA helicase
• Warsaw breakage syndrome
• Chromosome segregation
• Autosomal recessive

External links

• DDX11 at NCBI
• DDX11 at Genetics Home Reference