BCHE Gene - Butyrylcholinesterase
Genetic and functional insights into BCHE, a key enzyme in cholinergic metabolism and drug detoxification.
Gene Information Card
| Symbol | BCHE |
|---|---|
| Full Name | Butyrylcholinesterase |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.1 |
| NCBI Gene ID | 590 ncbi.nlm.nih.gov/gene/590 |
| Ensembl ID | ENSG00000114200 |
| UniProt ID | P06276 |
| OMIM ID | 177400 |
| HGNC ID | 983 |
| Aliases | CHE1, E1, pseudocholinesterase, butyrylcholine esterase |
Description
The BCHE gene encodes butyrylcholinesterase (BChE), a serine hydrolase that metabolizes choline esters, including acetylcholine and various drugs such as succinylcholine and cocaine. It is synthesized in the liver and secreted into plasma. Genetic variants can lead to prolonged neuromuscular blockade after succinylcholine administration and altered drug metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Succinylcholine Apnea | Reduced or absent BChE activity due to BCHE variants leads to prolonged paralysis after succinylcholine administration. | ClinVar, OMIM |
| Butyrylcholinesterase Deficiency | Loss-of-function mutations in BCHE cause decreased plasma cholinesterase activity, resulting in sensitivity to choline ester drugs. | OMIM, NCBI |
| Cocaine Dependence (protective) | Certain BCHE variants with increased catalytic efficiency may reduce cocaine toxicity and dependence risk. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 123.4 | High |
| Plasma | N/A | High (secreted) |
| Lung | 10.2 | Low |
| Brain | 8.5 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.6 | Hepatocellular carcinoma cell line |
| A549 | 12.3 | Lung carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293A>G (p.Asp70Gly) | Missense | Common (allele frequency ~2% in Caucasians) | Reduced BChE activity; associated with succinylcholine sensitivity. |
| c.1615G>A (p.Ala539Thr) | Missense | Rare | Decreased enzyme activity; prolonged apnea risk. |
| c.424G>A (p.Gly142Arg) | Missense | Rare | Severe loss of function; pseudocholinesterase deficiency. |
Mutation functional classification
Loss of Function (LOF)
Most BCHE mutations (e.g., Asp70Gly, Ala539Thr) reduce or abolish enzymatic activity, leading to succinylcholine apnea and drug sensitivity.
Gain of Function (GOF)
Rare variants (e.g., BCHE-K variant) may show altered substrate specificity but not typically gain-of-function.
Dominant Negative (DN)
Not commonly described; BCHE deficiency is usually autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004104 - cholinesterase activity | • GO:0005515 - protein binding |
| • GO:0005615 - extracellular space | • GO:0006584 - catecholamine metabolic process |
| • GO:0016787 - hydrolase activity |
Pathways
• Acetylcholine degradation (Reactome: R-HSA-2132295)
• Cocaine metabolism (Reactome: R-HSA-211981)
Protein Summary
Butyrylcholinesterase (BChE) is a 440-amino-acid glycoprotein that forms tetramers in plasma. It hydrolyzes a broad range of choline esters, including acetylcholine, butyrylcholine, and succinylcholine. BChE also detoxifies cocaine and organophosphate compounds. The enzyme is structurally similar to acetylcholinesterase but has a wider substrate specificity. Genetic polymorphisms affect drug metabolism and toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCHE Knockout HEK293 Cell Line | EDJ-KQ12524 | Human | 590 | Details Get a Quote |
| BCHE Knockout HeLa Cell Line | EDJ-KQ18081 | Human | 590 | Details Get a Quote |
| BCHE Knockout A-549 Cell Line | EDJ-KQ41512 | Human | 590 | Details Get a Quote |
| BCHE Knockout Hep-G2 Cell Line | EDJ-KZ117 | Human | 590 | Details Get a Quote |
| BCHE Knockout HCT 116 Cell Line | EDJ-KQ69671 | Human | 590 | Details Get a Quote |
| BCHE Knockout HAP1 Cell Line | EDC08071 | Human | 590 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
