Full Product Name
ATRX Mmab
Product Gene Name
anti-ATRX antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Preparation and Storage
Store at 2 to 8 degree C
ISO Certification
Manufactured in an ISO 13485:2016 Certified Laboratory.
Other Notes
Small volumes of anti-ATRX antibody 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.
NCBI/Uniprot data below describe general gene information for ATRX. It may not necessarily be applicable to this product.
UniProt Secondary Accession #
P51068; Q15886; Q59FB5; Q59H31; Q5H9A2; Q5JWI4; Q7Z2J1; Q9H0Z1; Q9NTS3; D3DTE2[Other Products]
UniProt Related Accession #
P46100[Other Products]
Molecular Weight
151,556 Da
NCBI Official Full Name
ATRX
NCBI Official Synonym Full Names
ATRX, chromatin remodeler
NCBI Official Symbol
ATRX??[Similar Products]
NCBI Official Synonym Symbols
JMS; SHS; XH2; XNP; ATR2; SFM1; MRX52; RAD54; MRXHF1; RAD54L; ZNF-HX
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NCBI Protein Information
transcriptional regulator ATRX
UniProt Protein Name
Transcriptional regulator ATRX
UniProt Synonym Protein Names
ATP-dependent helicase ATRX; X-linked helicase II; X-linked nuclear protein; XNP; Znf-HX
Protein Family
Transcriptional regulator
UniProt Gene Name
ATRX??[Similar Products]
UniProt Synonym Gene Names
RAD54L; XH2; XNP??[Similar Products]
UniProt Entry Name
ATRX_HUMAN
NCBI Summary for ATRX
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 Comments for ATRX
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; nuclear chromosome, telomeric region; nuclear heterochromatin; nucleus; PML body
Molecular Function: chromatin binding; DNA helicase activity; DNA translocase activity; helicase activity; histone binding; methylated histone residue binding; protein binding
Biological Process: chromatin remodeling; DNA damage response, signal transduction by p53 class mediator; DNA methylation; DNA recombination; DNA replication-independent nucleosome assembly; nucleosome assembly; positive regulation of telomere maintenance; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; replication fork processing
Disease: Alpha-thalassemia Myelodysplasia Syndrome; Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1
Research Articles on ATRX
1. ATRX mutation is associated with increased mutation rate at the single-nucleotide variant (SNV) level.
Precautions
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