RECQL4

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]

Full Name

RecQ protein-like 4

Function

DNA-dependent ATPase. May modulate chromosome segregation.

Biological Process

Biological Process DNA duplex unwindingManual Assertion Based On ExperimentIDA:GO_Central
Biological Process DNA recombinationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process DNA repairManual Assertion Based On ExperimentIBA:GO_Central
Biological Process DNA replicationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process DNA unwinding involved in DNA replicationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process double-strand break repair via homologous recombinationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process telomere maintenanceManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process telomeric D-loop disassemblyManual Assertion Based On ExperimentIDA:BHF-UCL

Cellular Location

Cytoplasm
Nucleus

Involvement in disease

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):
An autosomal recessive disorder characterized by dermatological features such as skin atrophy, pigmentation abnormalities, and telangiectasia. It is frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, hypogonadism, and an increased risk of osteosarcoma in childhood and skin cancer later in life.