Human ATRX ELISA Kit | ATRX elisa kit
Human Transcriptional regulator ATRX (ATRX) ELISA Kit
Principle of the Assay: This assay employs a two-site sandwich ELISA to quantitate ATRX in Human serum, plasma. An antibody specific for ATRX has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any ATRX present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for ATRX is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of ATRX bound in the initial step. The color development is stopped and the intensity of the color is measured.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
Uniprot Description
ATRX: a global transcriptional regulator. Belongs to the SNF2 family of proteins, many of which modify gene expression via chromatin remodeling activity. Involved in the developmental silencing of imprinted genes in the brain. Contains one PxVxL motif, which is required for interaction with chromoshadow domains. This motif requires additional residues at -7, -6, +4 and +5 relative to the central V which contact the chromoshadow domain. Constitutive mutations in ATRX are associated with brain, facial, and genital abnormalities, and alpha thalassemia. Acquired mutations in ATRX have been observed in preleukemic conditions. Six alternatively spliced human isoforms have been described.
Protein type: DNA repair, damage; EC 3.6.4.12; Helicase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: centric heterochromatin; condensed nuclear chromosome, centromeric region; nuclear body; nuclear chromosome, telomeric region; nuclear heterochromatin; nuclear subtelomeric heterochromatin; nucleoplasm; nucleus; PML body
Molecular Function: ATP binding; chromatin binding; chromo shadow domain binding; DNA binding; DNA helicase activity; DNA translocase activity; helicase activity; histone binding; metal ion binding; methylated histone residue binding; protein binding
Biological Process: chromatin remodeling; covalent chromatin modification; DNA damage response, signal transduction by p53 class mediator; DNA duplex unwinding; DNA methylation; DNA recombination; DNA repair; DNA replication-independent nucleosome assembly; forebrain development; meiotic spindle organization; multicellular organism growth; negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric; negative regulation of telomeric RNA transcription from RNA pol II promoter; nucleosome assembly; positive regulation of nuclear cell cycle DNA replication; positive regulation of telomere maintenance; positive regulation of telomeric RNA transcription from RNA pol II promoter; positive regulation of transcription from RNA polymerase II promoter; post-embryonic forelimb morphogenesis; regulation of histone H3-K9 trimethylation; regulation of transcription, DNA-templated; replication fork processing; seminiferous tubule development; Sertoli cell development; spermatogenesis; transcription, DNA-dependent
Disease: Alpha-thalassemia Myelodysplasia Syndrome; Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1
Research Articles on ATRX
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Product Notes
The Human ATRX atrx (Catalog #AAA283745) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA283745 ELISA Kit recognizes Human ATRX. It is sometimes possible for the material contained within the vial of "ATRX, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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