| Cat.No.: | EL-0101 |
| Product Name: | Recombinant Human ATRX Cell Lysate |
| 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. The mutations of 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. 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. |
| Species: | Human |
| Warning: | For research use only, not for diagnostic or therapeutic use. |
| Gene ID NCBI: | 546 |
| Official Symbol: | ATRX |
| Official Full Name: | alpha thalassemia/mental retardation syndrome X-linked |
| 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; |
| mRNA Refseq: | NM_000489 |
| Protein Refseq: | NP_000480 |
| MIM: | 300032 |
| UniProt ID: | P46100 |
| Chromosome Location: | Xq21.1 |
| Function: | ATP binding; DNA binding; DNA helicase activity; chromatin binding; chromo shadow domain binding; helicase activity; hydrolase activity; metal ion binding; nucleotide binding; protein binding; zinc ion binding; |
| Product Types | ||
| ◆ Cell Lines | ||
| CL-0020 | Human ATAD2 Knockout Cell Line 2bp deletion | Inquiry |
| CL-0021 | Human ATAD2B Knockout Cell Line 130bp insertion | Inquiry |
| CL-0022 | Human ATAD2B Knockout Cell Line 130bp insertion | Inquiry |
| ◆ Research Kits | ||
| EKIT-0021 | ATF2 (pT69/pT71) Transcription Factor Assay Kit | Inquiry |
| ◆ Extracts & Lysates | ||
| EL-0031 | Recombinant Human ATAD2 293 Cell Lysate | Inquiry |
| Related Gene / Proteins | |||
| ATAD2 | ATAT1 | ATF-6 | ATF1 |
| ATF2 | ATF4 | ATM | ATR |
| ATRX | ATXN3 | ATXN3L | ATXN7 |
| ATXN7L3 | |||
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