RECQL4 — RECQ DNA Helicase Like 4

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RECQL4 — RECQ DNA Helicase Like 4

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">RECQL4 — RECQ DNA Helicase Like 4</th>
</tr>
<tr> [@fang2019]
<td class="label">Symbol</td>
<td><strong>RECQL4</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>RECQ DNA Helicase Like 4</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>8q24.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/64093" target="_blank">64093</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000015171" target="_blank">ENSG00000015171</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/603780" target="_blank">603780</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9U143" target="_blank">Q9U143</a></td>
</tr>
<tr>
<td class="label">Protein</td>
<td>[RECQL4 Protein](/proteins/recql4)</td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>Rothmund-Thomson Syndrome, Rapadilino Syndrome, Baller-Gerold Syndrome</td>
</tr>
<tr>
<td class="label">Inheritance</td>
<td>Autosomal Recessive</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Skeletal muscle, Bone marrow, Brain (cerebellum, cortex)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/ms" st

...

RECQL4 — RECQ DNA Helicase Like 4

Introduction

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.

Overview

Mermaid diagram (expand to render)

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.

Function

RECQL4 is a DNA helicase with multiple cellular functions:

DNA Replication: Facilitates DNA replication fork progression and stability
DNA Repair: Participates in both base excision repair (BER) and non-homologous end joining (NHEJ)
Mitochondrial Function: Localizes to mitochondria and maintains mitochondrial DNA integrity
Telomere Maintenance: Contributes to telomere length maintenance
Transcriptional Regulation: Modulates gene expression through chromatin remodeling

Disease Associations

Rothmund-Thomson Syndrome (RTS)

RTS is a rare autosomal recessive disorder caused by biallelic pathogenic variants in RECQL4:

Clinical Features: Poikiloderma (skin atrophy, hyperpigmentation, telangiectasias), skeletal abnormalities, juvenile cataracts, dental anomalies, increased risk of osteosarcoma and skin cancers
Neurological Manifestations: Some patients exhibit developmental delay, microcephaly, and cerebellar atrophy
Pathogenesis: Loss of RECQL4 function leads to genomic instability, impaired DNA repair, and cellular senescence

Rapadilino Syndrome

Another RECQL4-associated disorder featuring:

Radial ray anomalies
Patella hypoplasia/aplasia
Diarrhea
Dislocated joints
Little stature
Nose malformations

Baller-Gerold Syndrome

Characterized by craniosynostosis and radial ray defects, also caused by RECQL4 variants.

Expression

RECQL4 is expressed in most tissues, with highest expression in:

Skeletal muscle
Bone marrow
Brain (cerebellum and cerebral cortex)
Developing fetal tissues

Expression is cell cycle-regulated, with peaks during S and G2 phases.

Key Publications

Wang LL, et al. (2003). "Spectrum of RECQL4 mutations in 80 patients with Rothmund-Thomson syndrome." Hum Mutat 21(3):300. PMID: 12619116(https://pubmed.ncbi.nlm.nih.gov/12619116/)
Siitonen HA, et al. (2009). "The mutation spectrum in RECQL4 diseases." Eur J Hum Genet 17(2):151-158. PMID: 18781602(https://pubmed.ncbi.nlm.nih.gov/18781602/)
Croteau DL, et al. (2014). "RECQL4 in genomic instability and aging." Nat Rev Genet 15(9):576-587. PMID: 25048173(https://pubmed.ncbi.nlm.nih.gov/25048173/)

[RECQL4 Protein](/proteins/recql4)
[DNA Damage Repair Mechanisms](/mechanisms/dna-damage-repair)
[Genetics of Neurodegeneration](/mechanisms/genetics)
[Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction)

Background

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.

Pathway Diagram

The following diagram shows the key molecular relationships involving RECQL4 — RECQ DNA Helicase Like 4 discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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RECQL4 — RECQ DNA Helicase Like 4

RECQL4 — RECQ DNA Helicase Like 4

RECQL4 — RECQ DNA Helicase Like 4

RECQL4 — RECQ DNA Helicase Like 4

Introduction

Overview

Function

Disease Associations

Rothmund-Thomson Syndrome (RTS)

Rapadilino Syndrome

Baller-Gerold Syndrome

Expression

Key Publications

Related Pages

Background

See Also

Pathway Diagram