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FLASH GENE
Symbol H6PD contributors: mct/pgu - updated : 22-09-2010
HGNC name hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HGNC id 4795
Corresponding disease
CRD2 cortisone reductase deficiency 2
Location 1p36.22      Physical location : 9.294.862 - 9.331.392
Synonym name
  • glucose dehydrogenase
  • GDH/6PGL endoplasmic bifunctional protein
  • G6PD, H form
    • Synonym symbol(s) GDH, G6PE, G6PDH, DKFZp686A01246, MGC87643
    EC.number 1.1.1.47
    DNA
    TYPE functioning gene
    STRUCTURE 36.53 kb     5 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 9117 88.9 791 - PMID: 10349511
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     mouthtongue  highly
     salivary gland   highly
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebonesubchondral  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • glucose-6- phosphate dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text located along with HSD11B1 in the lumen of the endoplasmic reticulum (ER)
    basic FUNCTION
  • oxidizing glucose-6-phosphate and glucose, as well as other hexose-6-phosphates
  • plays a role in maintaining normal NADPH levels and redox environment inside the endoplasmic reticulum
  • luminal enzyme of the endoplasmic reticulum that converts glucose-6-phosphate and NADP(+) to 6-phosphogluconate and NADPH, thereby catalyzing the first two reactions of the pentose-phosphate pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    pentose phosphate pathway inside the endoplasmic reticulum (ER) that generates NADPH for ER enzymes
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • NAD or NADP
    • protein
  • HSD11B1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    with HSD11B1 in cortisone reductase deficiency
    Susceptibility to multiple sclerosis (MS)
    Variant & Polymorphism other rs17368528 polymorphism associated with MS
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • H6PD null mice suffer a progressive skeletal myopathy
  • H6PD null mice indeed show signs of glucocorticoid deficiency, but also suffer from a skeletal myopathy mainly affecting fast twitch muscles, in which the unfolded protein response (UPR) is activated