alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerev

Human Transcriptional regulator ATRX (ATRX) ELISA kit; RP5-875J14.1; ATR2; MGC2094; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX; DNA dependent ATPase and helicase; X-linked nuclear protein; Zinc finger helicase; helicase 2; X-linked; transcriptional; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog; S. cerevisiae)

For Research Use Only. Not for use in diagnostic procedures.

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

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Small volumes of ATRX elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9331229 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (ATRX) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing ATRX. The ELISA analytical biochemical technique of the MBS9331229 kit is based on ATRX antibody-ATRX antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect ATRX antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, ATRX. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of ATRX (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

282,586 Da

alpha thalassemia/mental retardation syndrome X-linked

transcriptional regulator ATRX; X-linked helicase II; Zinc finger helicase; helicase 2, X-linked; X-linked nuclear protein; ATP-dependent helicase ATRX; DNA dependent ATPase and helicase; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

Transcriptional regulator ATRX

RAD54L; XH2; XNP  [Similar Products]

ATRX_HUMAN

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]

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

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