RECQL4 Gene

Last updated on: 25.11.2022

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DefinitionThis section has been translated automatically.

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

General informationThis section has been translated automatically.

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.

LiteratureThis section has been translated automatically.

  1. Baller F (1950) Radius aplasia and inbreeding. Z. Menschl. Vererb. Konstitutionsl 29: 782-790.
  2. Cohen MM et al (1996) Is there a Baller-Gerold syndrome? (Editorial) Am. J Med Genet. 61: 63-64.
  3. Gerold M (1959) Fracture healing in a rare case of congenital anomaly of the upper limbs. (Healing of a fracture in an unusual case of congenital anomaly of the upper extremities). Zbl. Chir. 84: 831-834.
  4. Kääriäinen H et al. (1989) RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. In: American journal of medical genetics 33: 346-351.
  5. Lu H et al (2011) Human RecQ helicases in DNA double-strand break repair. Front Cell Dev Biol9:640755.
  6. Megarbane A et al (2000) Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin. Dysmorph. 9: 303-305.
  7. Siitonen HA et al. (2003) Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. In: Human Molecular Genetics 21: 2837-2844.

Last updated on: 25.11.2022