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FLASH GENE
Symbol IDH3A contributors: mct - updated : 07-12-2020
HGNC name isocitrate dehydrogenase 3 (NAD+) alpha
HGNC id 5384
Corresponding disease
RP90 retinitis pigmentosa 90
Location 15q25.1      Physical location : 78.441.718 - 78.462.883
Synonym name NAD(H)-specific isocitrate dehydrogenase alpha subunit precursor
EC.number 1.1.1.41
DNA
TYPE functioning gene
STRUCTURE 22.58 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 4083 - 366 - 2019 30613765
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus    
Nervousbrain    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
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