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Alpha thalassemia/mental retardation syndrome X-linked
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM300032 MGI103067 HomoloGene416 GeneCards: ATRX Gene
EC number
Species Human Mouse
Entrez 546 22589
Ensembl ENSG00000085224 ENSMUSG00000031229
UniProt P46100 Q61687
RefSeq (mRNA) NM_000489 NM_009530
RefSeq (protein) NP_000480 NP_033556
Location (UCSC) Chr X:
77.5 – 77.79 Mb
Chr X:
105.8 – 105.93 Mb
PubMed search [1] [2]

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.[1][2][3]


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.[3]

Clinical significance[edit]

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.[3]


ATRX has been shown to interact with EZH2.[4]

See also[edit]


  1. ^ Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, Monaco L, Rastan S, Boncinelli E (April 1995). "Cloning and characterization of a new human Xq13 gene, encoding a putative helicase". Hum Mol Genet 3 (11): 1957–64. doi:10.1093/hmg/3.11.1957. PMID 7874112. 
  2. ^ Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (November 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis". Am J Hum Genet 51 (5): 1136–49. PMC 1682840. PMID 1415255. 
  3. ^ a b c "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)". 
  4. ^ Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L (1998). "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein". Hum. Mol. Genet. 7 (4): 679–84. doi:10.1093/hmg/7.4.679. PMID 9499421. 

Further reading[edit]

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