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]

Alpha thalassemia/mental retardation syndrome X linked homolog; ATP dependent helicase ATRX; ATP-dependent helicase ATRX; ATR2; Atrx; ATRX_HUMAN; DNA dependent ATPase and helicase; Helicase 2, X linked; MGC2094; MRXHF1; RAD54; RAD54L; SFM1; SHS; Transcriptional regulator ATRX; X linked helicase II; X linked nuclear protein; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Znf HX; Znf-HX.

Mouse,Rat,Human,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep

WB

WB 1:500-2000

283kD

546

P46100

https://www.uniprot.org/uniprotkb/P46100

Nucleus

Ubiquitous.

KLH conjugated synthetic peptide derived from human ATRX

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.