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FLASH GENE
Symbol BCHE contributors: mct/npt - updated : 21-12-2009
HGNC name butyrylcholinesterase
HGNC id 983
Corresponding disease
BCHE apnea, postanesthetic, suxamethonium sensitivity
Location 3q26.1      Physical location : 165.490.693 - 165.555.253
Synonym name
  • choline esterase II
  • acylcholine acylhydrolase
  • Synonym symbol(s) CHE1, E1
    EC.number 3.1.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 64.56 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2461 - 602 - Ghebremedhin (2007)
  • also called BCHE-K
  • presence of the K variant associated with the severity of Alzheimer disease (AD)-related neurofibrillary tangles (NFT) and amyloid beta-protein (Abeta)
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Reproductivefemale systemuterus  highly
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer homomer , tetramer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Bche
    Homologene
    FAMILY
  • type-B carboxylesterase/lipase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • hydrolyze choline esters
  • butyryl cholinesterase, ApoE4 carrier, regulator of myeloid cells
  • scavenger against organophosphorus and carbamate componds of the pesticides and cocaine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • four identical subunits, each containing an active catalytic site
  • two dimers linked by a disulfide bond
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCHE
    related resource ESTHERwebserver
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in apnea following the administration of the surgical muscle-relaxant succinylcholine
    tumoral fusion      
    dysregulated in myelogenous disorders
    Susceptibility to cocaine poisoning
    Variant & Polymorphism other
  • contradictory evidence for association of the K variant with late onset Alzheimer disease
  • mutations that reduce serum BCHE activity increasing the risk for cocaine poisoning
  • homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of neurofibrillary tangles pathology in young individuals implicating BCHE-K in the pathogenesis of early AD (Ghebremedhin 2007)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS