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FLASH GENE
Symbol GPD1L contributors: mct/npt - updated : 04-01-2010
HGNC name glycerol-3-phosphate dehydrogenase 1-like
HGNC id 28956
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinethyroid    
Hearing/Equilibriumear    
Reproductivefemale systemuteruscervix  
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer complex
HOMOLOGY
interspecies homolog to murine Gpd1l (94.6pc)
intraspecies homolog to glycerol phosphate dehydrogenase (GPD1)
Homologene
FAMILY
  • NAD-dependent glycerol-3-phosphate dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • having a function in cell physiology and in sudden cardiac arrest (Valdivia 2009)
  • involved in GPD1L pathway linking the metabolic state of the cell to I(Na) and excitability and important more generally in cardiac ischemia and heart failure (Valdivia 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • glycerol-3-phosphate dehydrogenase complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated with SCN5A (Valdivia 2009)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BRGS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    reduce cardiac Na+ current (I(Na)), may downregulate SCN5A by altering the oxidized to reduced NAD(H) balance and cause Brugada Syndrome (Liu 2009)
    Susceptibility
  • to Brugada syndrome
  • to sudden infant death syndrome
    • Variant & Polymorphism SNP
  • single-nucleotide polymorphism increasing the risk of Brugada syndrome in Japanese, minor role (Makiyama 2008)
  • mutations causing a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1L precipitate a marked decrease in the peak sodium current and a potentially lethal Brugada syndrome-like proarrhythmic substrate (Van Norstrand 2007)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS