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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
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