LP61785-9
NCF2 gene
Active
Description
The NCF2 gene (neutrophil cytosolic factor 2) [HGNC Gene ID:7661] is located on chromosome 1q25. This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] [NCBI Gene ID:4688] 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
- NCF2 gene
- Part Display Name
- NCF2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- NCF2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NCF2 基因 Synonyms: NOXA2; |
| et-EE | Estonian (Estonia) | NCF2 geen |
| es-ES | Spanish (Spain) | Gen NCF2 |
| it-IT | Italian (Italy) | NCF2, gene Synonyms: Gene NCF2 |
| tr-TR | Turkish (Turkey) | NCF2 geni |
| ru-RU | Russian (Russian Federation) | NCF2 ген |
| nl-NL | Dutch (Netherlands) | NCF2-gen Synonyms: NCF2 gen |
| fr-FR | French (France) | NCF2 gène |
| pl-PL | Polish (Poland) | NCF2 gen Synonyms: Gen NCF2 |
| el-GR | Greek (Greece) | Γονίδιο NCF2 Synonyms: Γονίδιο NCF2 |
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://