ATRX ATRX chromatin remodeler
Gene ID: 546, updated on 3-Nov-2024Gene type: protein coding
Also known as: JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX
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- Go to complete Gene record for ATRX
- Go to Variation Viewer for ATRX variants
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
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| Description | Tests |
|---|---|
| Acquired hemoglobin H disease | not available |
| Alpha thalassemia-X-linked intellectual disability syndrome MedGen: C1845055OMIM: 301040GeneReviews: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | not available |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 MedGen: C4759781OMIM: 309580GeneReviews: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-31) ClinGen Genome Curation PageHaploinsufficency 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
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 |
- ATRX @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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