G6PD glucose-6-phosphate dehydrogenase
Gene ID: 2539, updated on 22-Apr-2024Gene type: protein coding
Also known as: G6PD1
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- Go to complete Gene record for G6PD
- Go to Variation Viewer for G6PD variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | See labs |
| Chlorpropamide response MedGen: CN427423GeneReviews: Not available | See labs |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. GeneReviews: Not available | |
| Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. GeneReviews: Not available | |
| Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. GeneReviews: Not available | |
| Glibenclamide response MedGen: CN437679GeneReviews: Not available | See labs |
| Glimepiride response MedGen: CN437678GeneReviews: Not available | See labs |
| Glipizide response MedGen: C1832730GeneReviews: Not available | See labs |
| Malaria, susceptibility to | See labs |
| Pegloticase response MedGen: CN575653GeneReviews: Not available | See labs |
| Primaquine response MedGen: CN322745GeneReviews: Not available | not available |
| Rasburicase response MedGen: CN078005GeneReviews: Not available | See labs |
| Tafenoquine response MedGen: CN262925GeneReviews: Not available | See labs |
| Tolbutamide response MedGen: C4016718GeneReviews: Not available | See labs |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154531390..154547569, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for G6PD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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