RECQL4

Also known as RECQ4, RecQ like helicase 4

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.

Gene data

RECQL4

Name: RecQ like helicase 4
Type: protein-coding
Position: 144,511,288–144,517,845 (−)
Aliases: RECQ4
Ensembl: ENSG00000160957
RefSeq RNA: NM_001413017.1, NM_001413018.1, NM_001413019.1, NM_001413020.1, NM_001413021.1
RefSeq protein: NP_001399946.1, NP_001399947.1, NP_001399948.1, NP_001399949.1, NP_001399950.1

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010].

Gene Ontology

Biological process

telomere maintenance telomere maintenance

Article

4 sections

Contents

DNA repair
References
Further reading
External links

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. In addition to the Rothmund–Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller–Gerold syndromes. There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone). RECQL4 gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.