Catalog Number:
E45H30145E1Amount:
50 ugCite ID#:
EN5435189Price:
528$Type:
Recombinant ProteinsProduct Description:
Purified recombinant protein of Human alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, Leu908-Thr1068, with N-terminal His tag, expressed in E.coli, 50ugProtein length:
A DNA sequence encoding the region(Leu908-Thr1068) of ATRXExpression Host:
E. coliSpecies:
HumanMolecular Weight:
18.3 kDaGene symbol:
ATRXGene ID:
546mRNA Refseq:
NM_000489Protein Refseq:
NP_000480Swiss-Prot No.:
P46100, A4LAA3, B4DLW1Chromosome location:
Xq21.1Function:
Druggable Genome, Transcription FactorsSummary:
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 X-linked syndromes exhibiting cognitive disabilities as well as 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, Jul 2017]Form:
LiquidConcentration:
>50 ug/mL as determined by microplate BCA methodPurity:
> 80% as determined by SDS-PAGE and Coomassie blue stainingStorage/Stability:
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.Storage Buffer:
25mM Tris, pH8.0, 150mM NaCl, 10% glycerolSynonyms:
JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX