Recql4

Recql4 (pronounced as "rek-kwel-four") is a gene that encodes a member of the RecQ helicase family. The RecQ helicases are a class of enzymes that unwind the DNA double helix during DNA replication and repair. Mutations in this gene are associated with Rothmund-Thomson syndrome, Rapp-Hodgkin syndrome, and Ballard syndrome.

Etymology

The name "Recql4" is derived from the RecQ helicase family, which is named after the RecQ gene in Escherichia coli, where it was first identified. The "4" in "Recql4" indicates that it is the fourth member of this family to be discovered in humans.

Function

The Recql4 gene provides instructions for making a protein that is involved in maintaining the structure and integrity of DNA. This protein plays a critical role in DNA replication and repair, and it helps to prevent the DNA from becoming unstable, which can lead to cell death or the development of cancer.

Related Terms

• DNA replication: The process by which a double-stranded DNA molecule is copied to produce two identical DNA molecules.
• DNA repair: The collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.
• Helicase: An enzyme that unwinds the DNA double helix during DNA replication and repair.
• Rothmund-Thomson syndrome: A rare condition characterized by skin abnormalities, sparse hair, short stature, and skeletal and dental abnormalities. It is caused by mutations in the Recql4 gene.
• Rapp-Hodgkin syndrome: A condition that affects the development of several parts of the body. The signs and symptoms of this disorder vary widely but can include abnormalities of the skin, hair, nails, teeth, and sweat glands.
• Ballard syndrome: A condition characterized by premature aging and an increased risk of cancer. It is caused by mutations in the Recql4 gene.

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