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FLASH GENE
Symbol CHAT contributors: mct - updated : 15-10-2013
HGNC name choline acetyltransferase
HGNC id 1912
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