Entity Details

Primary name H6PD
Entity type gene
Source Source Link

Details

PrimaryID9563
RefseqGeneNG_012218
SymbolH6PD
Namehexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Chromosome1
Location1p36.22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsG6PE_HUMAN

GO terms

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GOName
GO:0004345 glucose-6-phosphate dehydrogenase activity
GO:0005739 mitochondrion
GO:0005788 endoplasmic reticulum lumen
GO:0006006 glucose metabolic process
GO:0009051 pentose-phosphate shunt, oxidative branch
GO:0017057 6-phosphogluconolactonase activity
GO:0030246 carbohydrate binding
GO:0047934 glucose 1-dehydrogenase (NAD+) activity
GO:0047935 glucose 1-dehydrogenase (NADP+) activity
GO:0050661 NADP binding
GO:0097305 response to alcohol
GO:2000064 regulation of cortisol biosynthetic process

Diseases

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Disease IDSourceNameDescription
604931 OMIMCortisone reductase deficiency 1 (CORTRD1)An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
H6PDANTXR1BioGRID, IntAct26186194 28514442 details
H6PDTAFAZZINBioGRID, IntAct26186194 28514442 details
H6PDFBXO6BioGRID, IntAct22268729 26186194 28514442 32409323 details
H6PDHNRNPLBioGRID28611215 details
H6PDVIRMABioGRID29507755 details