An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation.

The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661)

Interacts with UBR1 and UBR2 (PubMed:15317757). Interacts with MCM10; this interaction regulates RECQL4 unwinding activity (PubMed:19696745). Interacts (via residues 1-54) with TOPBP1 (PubMed:22730300)

Ubiquitously expressed, with highest levels in thymus and testis

• RAPADILINO syndrome (RAPADILINOS)

  Disease characterized by radial and patellar aplasia or hypoplasia.

• Baller-Gerold syndrome (BGS)

  An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

• Rothmund-Thomson syndrome 2 (RTS2)

  A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life.