BCHE butyrylcholinesterase
Gene ID: 590, updated on 19-Sep-2024Gene type: protein coding
Also known as: E1; CHE1; CHE2; BCHED
- See all available tests in GTR for this gene
- Go to complete Gene record for BCHE
- Go to Variation Viewer for BCHE variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. GeneReviews: Not available | |
| Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2). GeneReviews: Not available | |
| Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. GeneReviews: Not available | |
| Deficiency of butyrylcholinesterase | See labs |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.1
- Sequence:
- Chromosome: 3; NC_000003.12 (165772904..165837423, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCHE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BCHE database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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