LP89631-3
NPM1 gene
Active
Descriptions
The NPM1 gene encodes for nucleophosmin (NPM), a ubiquitously expressed nucleolar phoshoprotein which shuttles continuously between the nucleus and cytoplasm. NMP1 is translocated or mutated in various lymphomas and leukemias, forming fusion proteins (e.g. NPM-ALK, NPM-RARalpha, NPM-MLF1) or NPM mutant products. NPM1 mutations (e.g. mutA, mutB, mutD) occur in about 30% of adult de novo AML and cause aberrant cytoplasmic expression of NPM. Various molecular techniques are used for the detection of NPM1 gene alterations. Findings contribute to diagnosis, prognosis, and monitoring of minimal residual disease of various lymphomas and leukemias. Source: Regenstrief LOINC , PMID: 17488663
The NPM1 gene (nucleophosmin (nucleolar phosphoprotein B23, numatrin)) [HGNC Gene ID:7910] is located on chromosome 5q35.1. This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4869] 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
- NPM1 gene
- Part Display Name
- NPM1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-01-08
- Construct for LOINC Short Name
- NPM1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen NPM1 |
| it-IT | Italian (Italy) | NPM1, gene Synonyms: Gene NPM1 |
| et-EE | Estonian (Estonia) | NPM1 geen |
| zh-CN | Chinese (China) | NPM1 基因 Synonyms: B23; |
| tr-TR | Turkish (Turkey) | NPM1 geni |
| ru-RU | Russian (Russian Federation) | NPM1 ген |
| fr-CA | French (Canada) | Gène NPM1 Synonyms: Null |
| nl-NL | Dutch (Netherlands) | NPM1-gen Synonyms: NPM1 gen |
| el-GR | Greek (Greece) | Γονίδιο NPM1 Synonyms: Γονίδιο NPM1 |
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