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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
rs10575164500165,829,960
rs10575164820165,786,301
rs10575164960165,786,144
rs10575167070165,830,541
rs10575167840165,830,827
rs10575171440165,786,253
rs10575172080165,830,415
rs10575172180165,829,516
rs10575172210165,829,851
rs10575172650165,830,019
rs10575172880165,829,794
rs10575174390165,830,924
rs1147069840165,830,399
rs1156240850165,830,150
rs1219185560165,786,255
rs1219185570165,829,962
rs1219185580165,830,567
rs1355534165,788,069
rs1400805720165,830,277
rs17998074165,830,741
rs18032740165,773,492
rs2018207390165,830,606
rs289333893.5165,830,222
rs289333904165,829,781
rs34950165,773,193
rs3981246320165,830,599
rs4263329165,821,822
rs4680662165,798,762
rs7471963870165,830,139
rs7479836160165,830,367
rs7542146240165,830,006
rs7601827810165,830,595
rs7623417860165,829,750
rs7722596130165,830,536
rs7785687170165,830,241
rs7793665440165,773,508
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).