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FLASH GENE
Symbol HADHB contributors: mct - updated : 19-02-2018
HGNC name hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
HGNC id 4803
Corresponding disease
MTPD mitochondrial trifunctional protein deficiency
Location 2p23.3      Physical location : 26.467.615 - 26.513.332
Synonym symbol(s) TFPB, MSTP029, ECHB, MTPB, TP-BETA
EC.number 2.3.1.16
DNA
TYPE functioning gene
STRUCTURE 45.72 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2279 - 452 - 1999 10075708
15 - 2151 - 459 - 1999 10075708
16 - 2196 - 474 - 1999 10075708
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver    
Lymphoid/Immunethymus    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
intracellular,cytoplasm,organelle,mitochondria,outer
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
text ESR2 may be associated with HADHB in mitochondria
basic FUNCTION
  • fatty acid beta-oxidation trifunctional enzyme, beta subunit, harboring the long chain 3-oxoacyl-CoA thiolase, catalyzing three steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyl-CoA dehydrogenase step
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four alpha- and four beta-subunits (HADHA, HADHB) that catalyzes the final three steps of mitochondrial beta-oxidation of long chain fatty acids
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ELAVL1, REN, PCBP1
  • ESR1 interacted with mitochondrial protein HADHB and affected the thiolytic cleavage activity of HADHB in beta-oxidation
  • ESR2 plays an inhibitory role in HADHB enzyme activity in the breast cancer cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTPD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS