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FLASH GENE
Symbol IDH3A contributors: mct - updated : 07-12-2020
HGNC name isocitrate dehydrogenase 3 (NAD+) alpha
HGNC id 5384
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , oligo
HOMOLOGY
Homologene
FAMILY isocitrate and isopropylmalate dehydrogenases family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,nucleus
basic FUNCTION
  • isocitrate dehydrogenase 3, alpha subunit, NADH dependent, catalyzing the third step of citric acid cycle
  • abnormality in the metabolism of isocitrate by IDH3A in the mitochondria plays a key role in the pathogenesis of bipolar disorder (BD)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP90
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS