RECQL4 Gene

The RECQL4 gene (RECQL4 stands for "RecQ Like Helicase 4") is a protein coding gene located on chromosome 8q24.3.

The protein encoded by this gene is a DNA helicase that belongs to the RecQ family of helicases. DNA helicases unwind double-stranded DNA into single-stranded DNAs and can modulate chromosome segregation. This gene is expressed primarily in the thymus and testis.

Mutations in this gene are associated with Rothmund-Thomson syndrome, RAPADILINO syndrome, and Baller-Gerold syndrome.

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