LP19654-0
ATM gene
Active
Description
The ATM gene (ATM serine/threonine kinase) [HGNC Gene ID:795] is located on chromosome 11q22-q23. The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] [NCBI Gene ID:472] 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
- ATM gene
- Part Display Name
- ATM gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- ATM gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ATM 基因 Synonyms: ataxia telangiectasia mutated; |
| et-EE | Estonian (Estonia) | ATM geen |
| es-ES | Spanish (Spain) | Gen ATM |
| it-IT | Italian (Italy) | ATM, gene Synonyms: Gene ATM |
| tr-TR | Turkish (Turkey) | ATM geni |
| ru-RU | Russian (Russian Federation) | ATM ген |
| nl-NL | Dutch (Netherlands) | ATM-gen Synonyms: ATM gen |
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