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FLASH GENE
Symbol HADH contributors: mct - updated : 14-02-2013
HGNC name hydroxyacyl-Coenzyme A dehydrogenase
HGNC id 4799
Corresponding disease
HADHD 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency
HHF4 hyperinsulinemic hypoglycemia, familial, 4
Location 4q25      Physical location : 108.910.869 - 108.956.330
Synonym name L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
Synonym symbol(s) SCHAD, HADHSC, HADH1, HAD, HHF4, M/SCHAD, MGC8392
EC.number 1.1.1.35
DNA
TYPE functioning gene
STRUCTURE 45.46 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2037 - 331 - 1998 9716664
8 - 1986 - 314 - 1998 9716664
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestine   highly
Endocrineneuroendocrinepituitary  highly
Nervousbrain    
Reproductiveovary    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY 3-hydroxyacyl-Coenzyme A dehydrogenase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,nucleus
basic FUNCTION
  • 1-3-hydroxyacyl-CoA dehydrogenase, highest with medium chain fatty acids
  • participating in mitochondrial fatty acid oxidation
  • playing an essential role in the mitochondrial beta-oxidation of short chain fatty acids
  • involved in the penultimate step of mitochondrial fatty acid oxidation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions between HADH and GLUD1
  • associates with a protein super-complex integrating multiple metabolic pathways
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HADHD , HHF4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    HADH deficiency causes hyperinsulinism by activation of GLUD1 via loss of inhibitory regulation of GLUD1 by HADH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hadh(-/-) mice had reduced levels of plasma glucose and elevated plasma insulin levels and were hypersensitive to oral AA with decrease of glucose level and elevation of insulin