ATRX ATRX chromatin remodeler

Gene ID: 546, updated on 6-Oct-2024
Gene type: protein coding
Also known as: JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX

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. [provided by RefSeq, Jul 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Acquired hemoglobin H disease MedGen: C0585216OMIM: 300448GeneReviews: Not available	See labs
Alpha thalassemia-X-linked intellectual disability syndrome MedGen: C1845055OMIM: 301040GeneReviews: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	See labs
Intellectual disability-hypotonic facies syndrome, X-linked, 1 MedGen: C4759781OMIM: 309580GeneReviews: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-31) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-31) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xq21.1

Sequence:: Chromosome: X; NC_000023.11 (77504880..77786216, complement)

Total number of exons:: 37

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ATRX variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ATRX @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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