LP19710-0
G6PD gene
Active
Description
The G6PD gene (glucose-6-phosphate dehydrogenase) [HGNC Gene ID:4057] is located on chromosome Xq28. This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2539] 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
- G6PD gene
- Part Display Name
- G6PD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- G6PD gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | G6PD 基因 Synonyms: G6PD1; |
| es-ES | Spanish (Spain) | Gen G6PD |
| it-IT | Italian (Italy) | G6PD, gene Synonyms: Gene G6PD |
| et-EE | Estonian (Estonia) | G6PD geen |
| tr-TR | Turkish (Turkey) | G6PD geni |
| ru-RU | Russian (Russian Federation) | G6PD ген |
| nl-NL | Dutch (Netherlands) | G6PD-gen Synonyms: G6PD gen |
| el-GR | Greek (Greece) | Γονίδιο G6PD Synonyms: Γονίδιο G6PD |
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