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Validated All-in-One™ qPCR Primer for ATRX(NM_000489.5) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of 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. 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq].
Gene References into function
- findings indicate that ATRX dosage is crucial for normal development and organization of the cortex, and emphasize the relevance of our model for the study of ATRX function and disease pathogenesis
- involved in homologous DNA pairing
- in individuals with myelodysplasia associated with alpha-thalassemia, somatic mutations of the gene ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene
- forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies
- series of novel point mutations in ATRX detected in archival DNA samples from marrow and/or blood of patients with myelodysplastic syndrome associated with alpha-thalassemia
- the ATRX.Daxx complex is a novel ATP-dependent chromatin-remodeling complex, with ATRX being the core ATPase subunit and Daxx being the targeting subunit
- ATRX as a chromatin remodeling protein, and its role in mammalian sex differentiation--REVIEW
- Rad54 protein serves as a dsDNA gateway for the Rad51-ssDNA filament, promoting binding and an ATP hydrolysis-dependent translocation of dsDNA during the search for homologous sequences
- genetic mechanisms responsible for the phenotype of patients carrying a premature stop mutation in the ATRX gene
- report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene.
- REVIEW: ATRX encodes a trans-acting factor capable of influencing the expression of alpha-globin and other genes, and involved in alpha-thalassemia associated with mental retardation and acquired alpha-thalassemia associated with myelodysplastic syndrome
- Disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
- some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein
- The effects of individual point mutations on the folding state and stability of the ADD domain correlate well with the levels of mutant ATRX protein in patients, providing insights into the molecular pathophysiology of ATR-X syndrome.
- Mutations represent functional hypomorphs and suggest that loss of proper targeting to promyelocytic leukemia nuclear bodies is an important contributor to the pathogenesis of the ATR-X syndrome.
- Study finds that ATRX is required for normal mitotic progression in human cultured cells and in neuroprogenitors.
- Mutations in ATRX have been shown to perturb gene expression and DNA methylation; this is a report of 127 mutations including 32 reported here for the first time.
- ATRX has a role in repressing immediate-early transcription
- results demonstrate a link between branch migration activity of hRad54 and structure-specific endonuclease activity of hMus81-Eme1, suggesting that the Rad54 and Mus81-Eme1 proteins may cooperate in the processing of Holliday junction-like intermediates