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The ATRX gene codes for ATRX (alpha-thalassemia/mental retardation syndrome, nondeletion type, X-linked) protein which is involved in silencing certain gene sites in humans. ATRX gene mutations are strongly coupled to IDH & TP53 mutations, and occur in a number of human cancers (in the CNS: in secondary GBM and its precursors, grade II & grade III gliomas). Uncommon in oligodendrogliomas and secondary GBMs.

Testing for these is performed by polymerase chain reaction (PCR).

In general, ATRX & TP53 mutations are mutually exclusive of 1p/19q codeletion, and as such may be used as confirmatory markers to distinguish astrocytomas from oligodendrogliomas.

Indications: ATRX is a confirmatory test along with IDH1 mutation. ATRX & TP53 can be detected by immunohistochemical (IHC) stains or by Fluorescence in situ hybridization (FISH) and may be done in some hospitals or may be sent out to specialty labs; results typically take ≈ 2–3 days. The cost of IHC is on the order of $100–150 U.S., FISH is about $200–250 U.S.

Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.


Transcriptional regulator ATRX 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.

Clinical significance

Mutations of the ATRX 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. Female carriers may demonstrate skewed X chromosome inactivation.


ATRX has been shown to interact with EZH2.

atrx.txt · Last modified: 2019/12/30 16:53 by administrador