Recombinant Full Length Human ATRX Protein, GST-tagged

Cat.No. : ATRX-1535HF
Product Overview : Human ATRX full-length ORF ( AAH02521, 1 a.a. - 90 a.a.) recombinant protein with GST-tag at N-terminal.
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Species : Human
Source : In Vitro Cell Free System
Tag : GST
Protein Length : 90 amino acids
Description : 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]
Molecular Mass : 35.53 kDa
AA Sequence : MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS KEEGTSSSEK SKSSGSSRSK RKPSIVNKND
Applications : Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
Storage : Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
Storage Buffer : 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Gene Name ATRX alpha thalassemia/mental retardation syndrome X-linked [ Homo sapiens ]
Official Symbol ATRX
Synonyms ATRX; alpha thalassemia/mental retardation syndrome X-linked; alpha thalassemia/mental retardation syndrome X linked (RAD54 (S. cerevisiae) homolog) , JMS, Juberg Marsidi syndrome , RAD54; transcriptional regulator ATRX; RAD54 homolog (S. cerevisiae); XH2; XNP; RAD54 homolog; X-linked helicase II; Zinc finger helicase; helicase 2, X-linked; X-linked nuclear protein; ATP-dependent helicase ATRX; DNA dependent ATPase and helicase; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); JMS; SHS; ATR2; SFM1; RAD54; MRXHF1; RAD54L; ZNF-HX; MGC2094
Gene ID 546
mRNA Refseq NM_000489
Protein Refseq NP_000480
MIM 300032
UniProt ID P46100

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