RECQL4

RECQL4 is a gene that provides instructions for making a protein that is involved in maintaining the stability of a cell's genetic information. This protein is a member of the RecQ helicase family, a group of proteins that unwind the double helix of DNA. The RECQL4 protein is thought to play a critical role in DNA replication and repair.

Function

The RECQL4 protein is involved in several important cellular activities. It helps to regulate the process of copying (replicating) DNA in preparation for cell division. The protein also plays a role in repairing damaged DNA and maintaining the structure of chromosomes, the structures that hold DNA.

Clinical significance

Mutations in the RECQL4 gene are associated with three rare, overlapping conditions known as Rothmund-Thomson syndrome, Rapadilino syndrome, and Ballard syndrome. These conditions have some features in common, including slow growth, skeletal abnormalities, and an increased risk of developing cancer.

See also

• DNA helicase
• DNA replication
• DNA repair

External links

• RECQL4 at Genetics Home Reference
• RECQL4 at National Center for Biotechnology Information