ATRX / Unconjugated / 23c
Product Details
Description | ATRX is a member of the Snf2 family of helicase/ATPases, which contribute to the remodeling of the nucelosome structure in an ATP-dependent manner, and facilitate the initiation of transcription and replication. Structurally, it contains a PHD zinc finger motif. ATRX is regulated throughout the cell cycle where it is differentially distributed within the nucleus. During interphase, it predominately associates with the nuclear matrix, while during mitosis, ATRX localizes with condensed chromatin. At the onset of M phase, phosphorylation rapidly induces this redistribution of ATRX to the short arms of human acrocentric chromosomes, where it then specifically complexes with heterochromatin protein 1 to mediate chromosomal segregation. Mutations in the gene correlate with a high incidence of severe X-linked form of syndromal mental retardation associated with alpha-thalassemia or ATRX syndrome. | |
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Conjugate | Unconjugated | |
Clone | 23c | |
Target Species | Human | |
Applications | ELISA | |
Supplier | NSJ Bioreagents | |
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About ATRX
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]
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]
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