Version: 8.0.0
Date: Tue Jan 28 2025
H6pd
Mus musculusMGI:2140356
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

H6pd

Species
Mus musculus
Symbol
H6pd
Name
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms
  • AI785303
  • expressed sequence AI785303
Biotype
protein coding gene
Automated Description
Enables 6-phosphogluconolactonase activity and glucose-6-phosphate dehydrogenase activity. Involved in regulation of cortisol biosynthetic process. Acts upstream of or within pentose-phosphate shunt. Is active in sarcoplasmic reticulum. Is expressed in alimentary system; cerebral cortex; cranium; heart; and liver. Human ortholog(s) of this gene implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis. Orthologous to human H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulated insulin secretion in pancreatic islets. Conditional KO in adipocytes results in decreased fat weight and increased glucose tolerance and insulin sensitivity. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23429
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          H6pd molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            H6pd role
            H6pd genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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