LP62892-2
CYBB gene
Active
Description
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
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
- CYBB gene
- Part Display Name
- CYBB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-21
- Construct for LOINC Short Name
- CYBB 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) | CYBB 基因 Synonyms: CGD; |
| et-EE | Estonian (Estonia) | CYBB geen |
| es-ES | Spanish (Spain) | Gen CYBB |
| it-IT | Italian (Italy) | CYBB, gene Synonyms: Gene CYBB |
| tr-TR | Turkish (Turkey) | CYBB geni |
| ru-RU | Russian (Russian Federation) | CYBB ген |
| nl-NL | Dutch (Netherlands) | CYBB-gen Synonyms: CYBB gen |
| fr-FR | French (France) | CYBB gène |
| pl-PL | Polish (Poland) | CYBB gen Synonyms: Gen CYBB |
| el-GR | Greek (Greece) | Γονίδιο CYBB Synonyms: Γονίδιο CYBB |
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://