Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC, KD
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt, Pm
Applications: WB, ICC/IF, IHC, IP
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC, KD
Host: Mouse Monoclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, MA, AP
Species: Hu
Applications: WB, ELISA, MA, AP
Species: Hu
Applications: AC
Description
ATRX is 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.
Bioinformatics
Entrez |
Mouse Human |
Uniprot |
Human Human Human |
Product By Gene ID |
546 |
Alternate Names |
- alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae)homolog)
- alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S.cerevisiae)
- alpha thalassemia/mental retardation syndrome X-linked
- ATP-dependent helicase ATRX
- ATR2
- DNA dependent ATPase and helicase
- EC 3.6.1
- EC 3.6.4.12
- helicase 2, X-linked
- Juberg-Marsidi syndrome
- MGC2094
- MRXHF1
- RAD54 homolog
- RAD54L
- SFM1
- SHS
- transcriptional regulator ATRX
- XH2RAD54
- X-linked helicase II
- X-linked nuclear protein
- XNPZNF-HX
- Zinc finger helicase
- Znf-HX
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