Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX)
[Edit]ATR2; MRXS3; RAD54; RAD54L; SHS; XH2; XNP; ZNF-HX; ATP-Dependent Helicase ATRX,X-Linked Helicase II; X-Linked Nuclear Protein; Transcriptional regulator ATRX
![Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX)](/upload/item/img/Alpha-Thalassemia-Mental-Retardation-Syndrome-X-Linked-(aTRX)-99248.jpg)
ATRX 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.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPK248Hu01 | Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Positive Control; Immunogen; SDS-PAGE; WB. |
RPK248Hu02 | Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Positive Control; Immunogen; SDS-PAGE; WB. | |
Antibodies | n/a | Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) | ELISA Kit Customized Service Offer |
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- "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
- "The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9."Hum. Mol. Genet. 20:2195-2203(2011) [PubMed] [Europe PMC] [Abstract]
- "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
- "ATRX-mediated chromatin association of histone variant macroH2A1 regulates alpha-globin expression."Genes Dev. 26:433-438(2012) [PubMed] [Europe PMC] [Abstract]
- "Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway." PLoS Genet. 8:E1002772-E1002772(2012) [PubMed] [Europe PMC] [Abstract]
- "DAXX-dependent supply of soluble (H3.3-H4) dimers to PML bodies pending deposition into chromatin."Genome Res. 23:440-451(2013) [PubMed] [Europe PMC] [Abstract]
- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
- "Alternative lengthening of telomeres is characterized by reduced compaction of telomeric chromatin."Nucleic Acids Res. 42:4391-4405(2014) [PubMed] [Europe PMC] [Abstract]
- "ATRX dysfunction induces replication defects in primary mouse cells."PLoS ONE 9:E92915-E92915(2014) [PubMed] [Europe PMC] [Abstract]
- "Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX."Proc. Natl. Acad. Sci. U.S.A. 104:11939-11944(2007) [PubMed] [Europe PMC] [Abstract]
- "ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome."Nat. Struct. Mol. Biol. 18:769-776(2011) [PubMed] [Europe PMC] [Abstract]
- "Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin."Nat. Struct. Mol. Biol. 18:777-782(2011) [PubMed] [Europe PMC] [Abstract]
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- "Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)."Am. J. Med. Genet. 94:242-248(2000) [PubMed] [Europe PMC] [Abstract]
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- "A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation."Neurogenetics 6:45-47(2005) [PubMed] [Europe PMC] [Abstract]
- "ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern."Am. J. Med. Genet. A 140:2212-2215(2006) [PubMed] [Europe PMC] [Abstract]