LP71407-8
ATRX gene
Active
Description
The ATRX gene (alpha thalassemia/mental retardation syndrome X-linked) [HGNC Gene ID:886] is located on chromosome Xq21.1. 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 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. [provided by RefSeq, Aug 2013] [NCBI Gene ID:546] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- ATRX gene
- Part Display Name
- ATRX gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- ATRX gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ATRX 基因 Synonyms: RAD54; |
| et-EE | Estonian (Estonia) | ATRX geen |
| es-ES | Spanish (Spain) | Gen ATRX |
| it-IT | Italian (Italy) | ATRX, gene Synonyms: Gene ATRX |
| tr-TR | Turkish (Turkey) | ATRX geni |
| ru-RU | Russian (Russian Federation) | ATRX ген |
| nl-NL | Dutch (Netherlands) | ATRX-gen Synonyms: ATRX gen |
| fr-FR | French (France) | ATRX gène |
| el-GR | Greek (Greece) | Γονίδιο ATRX Synonyms: Γονίδιο ATRX |
| pl-PL | Polish (Poland) | ATRX gen Synonyms: Gen ATRX |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://