LP269260-8
CYBB gene full & NCF1 gene c.75_76delGT analysis
Active
Descriptions
NCF1 gene encodes the neutrophil cytosolic factor 1 (NCF1) protein. NCF1 is a subunit of a group of proteins that comprise the enzyme NADPH oxidase. NADPH plays an important role in regulating neutrophil activity and in helping phagocytes neutralize bacteria and fungi. In addition, NADPH helps moderate the inflammatory response that may otherwise cause excessive damage to the body. When microorganisms infect the body, they stimulate phagocytes to assemble NADPH oxidase, which is critical to the chemical reaction that converts oxygen to a superoxide. The superoxide is instrumental in producing antibiotic chemicals including hydrogen peroxide and hypochlorous acid. Mutations in the NCF1 gene affect NCF1 protein production and/or function, which prevents the assembly and function of NADPH. Twenty-five percent patients with chronic granulomatous disease have mutations in the NCF1 gene, and NCF1 deletions are associated with Williams syndrom. [MedlinePlus Gene: NCF1] Source: Regenstrief LOINC
The CYBB gene (cytochrome b-245, beta polypeptide) [HGNC Gene ID:2578] is located on chromosome Xp21.1. Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1536] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CYBB gene full & NCF1 gene c.75_76delGT analysis
- Part Display Name
- CYBB gene full and NCF1 gene c.75_76delGT analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-09-25
- Construct for LOINC Short Name
- CYBB full + NCF1 c.75_76delGT
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP269260-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CYBB 基因全面分析与 NCF1 基因 c.75_76delGT 分析 Synonyms: 还原型辅酶II氧化酶 2; |
| es-ES | Spanish (Spain) | Análisis del gen completo CYBB y de la delección c.75_76delGT del gen NCF1 |
| it-IT | Italian (Italy) | Gene completo CYBB & gene NCF1 c.75_76delGT, analisi Synonyms: Analisi gene completo CYBB e gene NCF1 c.75_76delGT |
| el-GR | Greek (Greece) | Ανάλυση πλήρους γονιδίου CYBB & γονιδίου NCF1 c.75_76delGT Synonyms: Ανάλυση πλήρους γονιδίου CYBB & γονιδίου NCF1 c.75_76delGT |
LOINC Copyright
Copyright © 2025 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://