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.
Immunogen Information
Immunogen
Synthetic peptide of human ATRX
Swissprot
P46100
Synonyms
Alpha thalassemia/mental retardation syndrome X linked homologATP dependent helicase ATRXATP-dependent helicase ATRXATR2AtrxATRXDNA dependent ATPase and helicaseHelicase 2X linkedMGC2094MRXHF1RAD54RAD54LSFM1SHSTranscriptional regulator ATR
Gene Accession
NP000480
Applications
Reactivity
Human, Mouse
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:30-1:150, ELISA 1:5000-1:10000
Concentration
0.7 mg/mL
Storage Buffer
PBS with 0.05% NaN3 and 40% Glycerol, pH7.4
Storage Instructions
Store at -20°C. Avoid freeze / thaw cycles.
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