BCHE Chromosome 3
Butyrylcholinesterase
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What This Gene Does
This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Cholinesterase family
Locus Type
gene with protein product
Location
3q26.1
Ensembl
ENSG00000114200
Associated Conditions (15)
Suxamethonium response - slow metabolism
Inborn genetic diseases
Deficiency of butyrylcholinesterase
See cases
Butyrylcholinesterase activity
BCHE
flouride 1
fluoride 2
BCHE-related disorder
Autosomal recessive BCHE-related disorders
H variant
Butyrylcholinesterase deficiency
fluoride-resistant
Japanese type
Postanesthetic apnea
Key Variants
RS751910853
drug response
Suxamethonium response - slow metabolism, Suxamethonium response - slow metabolism
Drug Response
RS114063013
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114706984
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, See cases, Deficiency of butyrylcholinesterase
Health Risk
RS115624085
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS142531034
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS143300460
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS144987429
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS146936556
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS16849700
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS1803274
Conflicting classifications of pathogenicity
Butyrylcholinesterase activity, Deficiency of butyrylcholinesterase, Butyrylcholinesterase activity
Health Risk
RS200035175
Conflicting classifications of pathogenicity
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
Health Risk
RS28933389
Conflicting classifications of pathogenicity
BCHE, flouride 1, Deficiency of butyrylcholinesterase
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751910853 | Drug Response | drug response | Suxamethonium response - slow metabolism, Suxamethonium response - slow metabolism |
| RS114063013 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS114706984 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, See cases, Deficiency of butyrylcholinesterase |
| RS115624085 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS142531034 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS143300460 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS144987429 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS146936556 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS16849700 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1803274 | Health Risk | Conflicting classifications of pathogenicity | Butyrylcholinesterase activity, Deficiency of butyrylcholinesterase, Butyrylcholinesterase activity |
| RS200035175 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS28933389 | Health Risk | Conflicting classifications of pathogenicity | BCHE, flouride 1, Deficiency of butyrylcholinesterase |
| RS28933390 | Health Risk | Conflicting classifications of pathogenicity | BCHE, fluoride 2, Deficiency of butyrylcholinesterase |
| RS370077923 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS531738678 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS71534242 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, BCHE-related disorder, Deficiency of butyrylcholinesterase |
| RS750175032 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Inborn genetic diseases, Deficiency of butyrylcholinesterase |
| RS774072493 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057516450 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057516482 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057516496 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057516707 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057516784 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517144 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517208 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517218 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517221 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517265 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517288 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517439 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1278095773 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS140080572 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778017 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778044 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778114 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778179 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778185 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778198 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1553778291 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS2108235127 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS2473425708 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS527843566 | Health Risk | Likely pathogenic | BCHE, H variant, BCHE |
| RS568724445 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS746209182 | Health Risk | Likely pathogenic | — |
| RS747196387 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS747983616 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS759679732 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS760182781 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS762189020 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS762341786 | Health Risk | Likely pathogenic | Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |