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FLASH GENE
Symbol CHAT contributors: mct - updated : 15-10-2013
HGNC name choline acetyltransferase
HGNC id 1912
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Chat
Homologene
FAMILY carnitine/choline acetyltransferase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • neurotransmitter catalyzing the reversible synthesis of acetylcholine(ACH) from acetyl CoA and choline at cholinergic synapses
  • catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other involvement of histone acetylation in the regulation of choline acetyltransferase gene in neuronal cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS6 , DEL10Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the large striatal interneurons of Huntington disease (HD)
    Susceptibility to Alzheimer disease (AD)
    Variant & Polymorphism other
  • CHAT A/A genotype was associated with earlier onset of AD
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS