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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
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