ATRX
Sign in to saveAlso known as ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2
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.
Gene data
ATRX- Name
- ATRX chromatin remodeler
- Type
- protein-coding
- Chromosome
- X
- Aliases
- JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX
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].
via MyGene.info
Gene · Ensembl
ATRX chromatin remodeler
- Symbol
- ATRX
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:77,504,862-77,786,233
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 416
- exact match
- identifiers.org/ncbigene/546
- genomic start
- 77504880
- genomic end
- 77786233
- cytogenetic location
- Xq21.1
Sources (7)
via Wikidata · CC0
~2 min read
Article
9 sectionsContents
- Function
- Clinical significance
- Inherited mutations
- Somatic mutations
- Interactions
- See also
- References
- Further reading
- External links
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.
== Function ==