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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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