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FLASH GENE

Symbol

BCHE

contributors: mct/npt - updated : 21-12-2009

HGNC name	butyrylcholinesterase
HGNC id	983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BCHE

related resource

ESTHERwebserver

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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