ITN0487
ITN0487
- Catalog: ITN0487
- Gene/Protein: RECQL4 RECQ4
- Product Description: Immunotag™ RECQ4 Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
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| Target Protein | RECQ4 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,ELISA |
| Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
| Concentration | 1 mg/ml |
| Reactive Species | Human |
| Host Species | Rabbit |
| Immunogen | Synthesized peptide derived from human protein . at AA range: 1030-1110 |
| Specificity | RECQ4 Polyclonal Antibody detects endogenous levels of protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
| Gene Name | RECQL4 RECQ4 |
| Accession No. | O94761 Q75NR7 |
| Description | RecQ like helicase 4(RECQL4) Homo sapiens 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], |
| Protein Expression | Lymph,Placenta,Testis, |
| Subcellular Localization | nucleus,chromosome,cytoplasm,membrane, |
| Protein 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, 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., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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