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BCHE

From SNPedia

is agene
is mentioned by
Full namebutyrylcholinesterase
EntrezGene590
PheGenI590
VariationViewer590
ClinVarBCHE
dbSNP590
SADR590
HugeNav590
wikipediaBCHE
googleBCHE
gopubmedBCHE
EVSBCHE
HEFalMpBCHE
MyGene2BCHE
23andMeBCHE
UniProtP06276
EnsemblENSG00000114200
OMIM177400
# SNPs15
 Max MagnitudeChromosome positionSummary
rs1048936840165,830,030
rs1219185560165,786,255
rs1219185570165,829,962
rs1219185580165,830,567
rs1355534165,788,069
rs17998074165,830,741
rs18032740165,773,492
rs201820739165,830,606
rs289333893.5165,830,222
rs289333904165,829,781
rs3495165,773,193
rs3981246320165,830,599
rs4263329165,821,822
rs4680662165,798,762
rs829508165,784,936

The BCHE gene codes for the BuChE (butyrylcholinesterase) enzyme. This enzyme binds to various substrates, including Cholinesterase Inhibitors (CIs), and plays a role in protecting the neurotransmitter AChE (acetylcholine) from inhibitition. BuChE activity is also leveraged by various pharmaceuticals, such as succinylcholine, to control duration of action.

Variations in the BCHE gene, most notably rs1799807, can alter the structure, substrate specificity, and/or activity of BuChE. These variations can result in atypical reactions to CIs and altered behavior/toxicity of pharmaceuticals which base dosage and timing assumptions on the behavior of the most common BuChE version(s).