ATRX (NM_000489) Human Recombinant Protein
CAT#: TP762461
Purified recombinant protein of Human alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, Leu2214-Arg2413, with N-terminal His tag, expressed in E.coli, 50ug
Other products for "ATRX"
Specifications
Product Data | |
Species | Human |
Expression Host | E. coli |
Expression cDNA Clone or AA Sequence |
A DNA sequence encoding the region(Leu2214-Arg2413) of ATRX
|
Tag | N-His |
Predicted MW | 22.9 kDa |
Concentration | >50 ug/mL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 50mM Tris, pH8.0, 8M Urea |
Storage | Store at -80°C after receiving vials. |
Stability | Stable for at least 1 year from receipt of products under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. |
Reference Data | |
RefSeq | NP_000480 |
Locus ID | 546 |
UniProt ID | P46100, A4LAA3, B4DLW1 |
Cytogenetics | Xq21.1 |
Refseq Size | 10330 |
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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