Reactive species
Human;Rat;Mouse;
Antibody type
Polyclonal Antibody
Protein name
ATP-dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)
Immunogen
Synthesized peptide derived from human protein . at AA range: 1030-1110
Specificity
RECQ4 Polyclonal Antibody detects endogenous levels of protein.
Constitute
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease:Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is 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. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.,disease:Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia.,disease:Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized by dermatological features such as atrophy, pigmen
