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BCHE

From SNPedia

is agene
is mentioned by
Full namebutyrylcholinesterase
EntrezGene590
PheGenI590
VariationViewer590
ClinVarBCHE
GeneCardsBCHE
dbSNP590
DiseasesBCHE
SADR590
HugeNav590
wikipediaBCHE
googleBCHE
gopubmedBCHE
EVSBCHE
HEFalMpBCHE
MyGene2BCHE
23andMeBCHE
UniProtP06276
EnsemblENSG00000114200
OMIM177400
# SNPs38
 Max MagnitudeChromosome positionSummary
rs1048936840165,830,030
rs1057516450165,829,960
rs1057516482165,786,301
rs1057516496165,786,144
rs1057516707165,830,541
rs1057516784165,830,827
rs1057517144165,786,253
rs1057517208165,830,415
rs1057517218165,829,516
rs1057517221165,829,851
rs1057517265165,830,019
rs1057517288165,829,794
rs1057517439165,830,924
rs114706984165,830,399
rs115624085165,830,150
rs1219185560165,786,255
rs1219185570165,829,962
rs1219185580165,830,567
rs1355534165,788,069
rs140080572165,830,277
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
rs747196387165,830,139
rs747983616165,830,367
rs754214624165,830,006
rs760182781165,830,595
rs762341786165,829,750
rs772259613165,830,536
rs778568717165,830,241
rs779366544165,773,508
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).