Gene: ATRX

Alternate names for this Gene: JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.1

Description of this Gene: ATRX chromatin remodeler

Type of Gene: protein-coding

rs1057518708 in ATRX gene and ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED PMID 9326931 1997 Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 21421568 2011 The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

PMID 7697714 1995 Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

PMID 9043863 1996 A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 16955409 2006 ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

PMID 8968741 1996 ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

PMID 10204841 1999 Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

PMID 10660327 1998 New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

PMID 10995512 2000 Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

PMID 14990586 2004 A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.

PMID 16955409 2006 Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX.

PMID 21505078 2011 Functional significance of mutations in the Snf2 domain of ATRX.

rs122445110 in ATRX gene and Dysmorphic features PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 16118346 2006 X linked mental retardation: a clinical guide.

rs122445101 in ATRX gene and Juberg-Marsidi syndrome PMID 15565397 2005 A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

PMID 16222662 2005 Asplenia in ATR-X syndrome: a second report.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 8630485 1996 XNP mutation in a large family with Juberg-Marsidi syndrome.

PMID 10751095 2000 Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 10632111 2000 A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

rs1557082399 in ATRX gene and Movement Disorders PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

rs122445110 in ATRX gene and Multiple congenital anomalies PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

rs1557082399 in ATRX gene and Muscle hypotonia PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.