Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: G6PD (glucose-6-phosphate dehydrogenase) Homo sapiens
Analyze
Symbol: G6PD
Name: glucose-6-phosphate dehydrogenase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: G6PD1; glucose-6-phosphate 1-dehydrogenase; glucose-6-phosphate dehydrogenase, G6PD
Orthologs:
Mus musculus (house mouse) : G6pdx (glucose-6-phosphate dehydrogenase X-linked)  MGI  Alliance
Rattus norvegicus (Norway rat) : G6pd (glucose-6-phosphate dehydrogenase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : G6pd (glucose-6-phosphate dehydrogenase)
Pan paniscus (bonobo/pygmy chimpanzee) : G6PD (glucose-6-phosphate dehydrogenase)
Canis lupus familiaris (dog) : G6PD (glucose-6-phosphate dehydrogenase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : G6pd (glucose-6-phosphate dehydrogenase)
Sus scrofa (pig) : G6PD (glucose-6-phosphate dehydrogenase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,531,390 - 154,547,586 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,759,606 - 153,775,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,412,800 - 153,428,981 (-)NCBINCBI36hg18NCBI36
Build 34X153,323,309 - 153,339,173NCBI
CeleraX153,920,654 - 153,936,836 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,336,102 - 142,352,295 (-)NCBIHuRef
CHM1_1X153,671,374 - 153,687,570 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants