ATRX (NM_000489) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression Host	E. coli
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) A DNA sequence encoding the region(Leu908-Thr1068) of ATRX
Tag	N-His
Predicted MW	18.3 kDa
Concentration	>0.05 µg/µL as determined by microplate BCA method
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer	25 mM Tris-HCl, pH 8.0, 150 mM NaCl, 10% glycerol
Note	For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process.
Storage	Store at -80°C after receiving vials.
Stability	Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
Reference Data
RefSeq	NP_000480
Locus ID	546
UniProt ID	P46100
Refseq Size	10330
Cytogenetics	Xq21.1
Refseq ORF	7476
Synonyms	JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX
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. 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]
Protein Families	Druggable Genome, Transcription Factors

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