产品名称
RECQ4 Rabbit Polyclonal Antibody
蛋白名称
ATP-dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
O94761
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O94761/entry
Mouse Swissprot No.
Q75NR7
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q75NR7
免疫原
Synthesized peptide derived from human protein . at AA range: 1030-1110
特异性
RECQ4 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Ubiquitously expressed, with highest levels in thymus and testis.
细胞定位
Cytoplasm . Nucleus .
功能
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, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.,function:DNA-dependent ATPase. May modulate chromosome segregation.,induction:Up-regulated in actively dividing cells.,similarity:Belongs to the helicase family. RecQ subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,subunit:Interacts with UBR1 and UBR2.,tissue specificity:Ubiquitously expressed, with highest levels in thymus and testis.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
