Human alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ELISA Kit | ATRX elisa kit
Human Transcriptional regulator ATRX, ATRX ELISA Kit
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 an X-linked mental retardation (XLMR) syndrome most often accompanied by 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, Aug 2013]
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: Ubiquitin conjugating system; DNA repair, damage; EC 3.6.4.12; Helicase
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: nucleoplasm; PML body; nuclear heterochromatin; nucleus
Molecular Function: DNA helicase activity; protein binding; DNA binding; zinc ion binding; histone binding; chromatin binding; helicase activity; DNA translocase activity; methylated histone residue binding; ATP binding
Biological Process: DNA damage response, signal transduction by p53 class mediator; transcription, DNA-dependent; positive regulation of telomere maintenance; DNA repair; Sertoli cell development; DNA duplex unwinding; replication fork processing; DNA recombination; chromatin remodeling; nucleosome assembly; regulation of transcription, DNA-dependent; DNA replication-independent nucleosome assembly; forebrain development; DNA methylation; positive regulation of transcription from RNA polymerase II promoter; spermatogenesis
Disease: Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Alpha-thalassemia Myelodysplasia Syndrome
Research Articles on ATRX
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Product Notes
The Human ATRX atrx (Catalog #AAA9331229) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9331229 ELISA Kit recognizes Human ATRX. It is sometimes possible for the material contained within the vial of "alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae), 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
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