| RECQL4 — RECQ DNA Helicase Like 4 | |
|---|---|
| Symbol | RECQL4 |
| Full Name | RECQ DNA Helicase Like 4 |
| Chromosome | 8q24.3 |
| NCBI Gene | 64093 |
| Ensembl | ENSG00000015171 |
| OMIM | 603780 |
| UniProt | Q9U143 |
| Protein | [RECQL4 Protein](/proteins/recql4) |
| Diseases | Rothmund-Thomson Syndrome, Rapadilino Syndrome, Baller-Gerold Syndrome |
| Inheritance | Autosomal Recessive |
| Expression | Skeletal muscle, Bone marrow, Brain (cerebellum, cortex) |
Recql4 — Recq Dna Helicase Like 4 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
RECQL4 (RECQ DNA Helicase Like 4) encodes a member of the RecQ family of DNA helicases. The protein possesses ATP-dependent DNA helicase activity and plays crucial roles in DNA repair, replication, and recombination. Pathogenic variants in RECQL4 cause several autosomal recessive disorders characterized by developmental abnormalities, premature aging features, and increased cancer susceptibility.
RECQL4 is a DNA helicase with multiple cellular functions:
RTS is a rare autosomal recessive disorder caused by biallelic pathogenic variants in RECQL4:
Another RECQL4-associated disorder featuring:
Characterized by craniosynostosis and radial ray defects, also caused by RECQL4 variants.
RECQL4 is expressed in most tissues, with highest expression in:
Expression is cell cycle-regulated, with peaks during S and G2 phases.
The study of Recql4 — Recq Dna Helicase Like 4 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Wang LL, et al. (2003). Spectrum of RECQL4 mutations in 80 patients with Rothmund-Thomson syndrome. Human Mutation, 21(3), 300-310. https://doi.org/10.1002/humu.10174
Siitonen HA, et al. (2009). The mutation spectrum in RECQL4 diseases. European Journal of Human Genetics, 17(2), 151-158. https://doi.org/10.1038/ejhg.2008.188
Croteau DL, et al. (2014). RECQL4 in genomic instability and aging. Nature Reviews Genetics, 15(9), 576-587. https://doi.org/10.1038/nrg3748
Kitao S, et al. (2006). Rothmund-Thomson syndrome responsible gene, RECQL4: cellular functions of the protein and its associated diseases. Molecular Mechanisms of Aging, 175(1-2), 57-66. https://doi.org/10.1016/j.mad.2006.01.004
Fang J, et al. (2019). Mitochondrial dysfunction in RECQL4-deficient cells and therapeutic implications. Aging Cell, 18(4), e12954. https://doi.org/10.1111/acel.12954