RECQL4
RECQL4
RECQL4 (pronounced "rek-kul-four") is a gene that encodes a member of the RecQ helicase family. The RecQ helicase family is a group of enzymes that play a crucial role in maintaining the integrity of the genomic DNA.
Etymology
The term "RECQL4" is derived from the name of the family of enzymes it belongs to, the RecQ helicases. The "4" denotes that it is the fourth member of this family to be discovered.
Function
The RECQL4 gene is responsible for producing an enzyme that helps to maintain the stability of a cell's genetic information. This enzyme is involved in several important cellular processes, including DNA repair, DNA replication, and cellular division. Mutations in the RECQL4 gene can lead to a variety of medical conditions, including Rothmund-Thomson syndrome, Rapadilino syndrome, and Ballard syndrome.
Related Terms
- RecQ helicase: A family of enzymes that play a crucial role in maintaining the integrity of the genomic DNA.
- Genome: The complete set of genes or genetic material present in a cell or organism.
- DNA repair: The collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.
- DNA replication: The process by which a double-stranded DNA molecule is copied to produce two identical DNA molecules.
- Cell division: The process by which a parent cell divides into two or more daughter cells.
- Rothmund-Thomson syndrome: A rare condition characterized by skin abnormalities, skeletal malformations, and a high risk of developing certain types of cancer.
- Rapadilino syndrome: A rare genetic disorder characterized by skeletal malformations, growth retardation, and an increased risk of developing certain types of cancer.
- Ballard syndrome: A rare genetic disorder characterized by growth retardation, skeletal abnormalities, and an increased risk of developing certain types of cancer.
External links
- Medical encyclopedia article on RECQL4
- Wikipedia's article - RECQL4
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