Reviewed April 2012
What is the official name of the BCHE gene?
The official name of this gene is “butyrylcholinesterase.”
BCHE is the gene's official symbol. The BCHE gene is also known by other names, listed below.
What is the normal function of the BCHE gene?
The BCHE gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of certain drugs, including muscle relaxant drugs called choline esters that are used during general anesthesia. These drugs are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing, and are often employed in emergencies when a breathing tube must be inserted quickly.
Pseudocholinesterase also helps protect the body by breaking down certain toxic substances before they reach the nerves. These substances include certain pesticides, poisons that attack the nerves, and specific natural toxins including a compound called solanine found in green potato skin. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals.
How are changes in the BCHE gene related to health conditions?
- pseudocholinesterase deficiency - caused by mutations in the BCHE gene
More than 50 mutations in the BCHE gene have been identified in people with pseudocholinesterase deficiency, a condition that results in increased sensitivity to choline esters and certain other drugs. Some of these mutations replace single protein building blocks (amino acids) in the pseudocholinesterase enzyme, resulting in an abnormal enzyme that does not function properly. Other mutations prevent the production of pseudocholinesterase. A lack (deficiency) of functional pseudocholinesterase enzyme impairs the body's ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.
Where is the BCHE gene located?
Cytogenetic Location: 3q26.1-q26.2
Molecular Location on chromosome 3: base pairs 165,772,904 to 165,837,472
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/590))
The BCHE gene is located on the long (q) arm of chromosome 3 between positions 26.1 and 26.2.
More precisely, the BCHE gene is located from base pair 165,772,904 to base pair 165,837,472 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about BCHE?
You and your healthcare professional may find the following resources about BCHE helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for BCHE (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28BCHE%5BTIAB%5D%29%20OR%20%28butyrylcholinesterase%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/177400)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_BCHE.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=983)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/590)
What other names do people use for the BCHE gene or gene products?
- acylcholine acylhydrolase
- butyrylcholine esterase
- choline esterase II
- cholinesterase 1
- cholinesterase precursor
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding BCHE?
muscle relaxant ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: BUTYRYLCHOLINESTERASE (http://omim.org/entry/177400)
- Garcia DF, Oliveira TG, Molfetta GA, Garcia LV, Ferreira CA, Marques AA, Silva WA Jr. Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. Genet Mol Biol. 2011 Jan;34(1):40-4. doi: 10.1590/S1415-47572011000100008. Epub 2011 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/21637541?dopt=Abstract)
- Gätke MR, Bundgaard JR, Viby-Mogensen J. Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. Pharmacogenet Genomics. 2007 Nov;17(11):995-9. (http://www.ncbi.nlm.nih.gov/pubmed/18075469?dopt=Abstract)
- Howard TD, Hsu FC, Grzywacz JG, Chen H, Quandt SA, Vallejos QM, Whalley LE, Cui W, Padilla S, Arcury TA. Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE. Environ Health Perspect. 2010 Oct;118(10):1395-9. doi: 10.1289/ehp.0901764. Epub 2010 Jun 8. (http://www.ncbi.nlm.nih.gov/pubmed/20529763?dopt=Abstract)
- Levano S, Ginz H, Siegemund M, Filipovic M, Voronkov E, Urwyler A, Girard T. Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. Anesthesiology. 2005 Mar;102(3):531-5. (http://www.ncbi.nlm.nih.gov/pubmed/15731589?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/590)
- Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003 Aug;49(8):1297-308. (http://www.ncbi.nlm.nih.gov/pubmed/12881446?dopt=Abstract)
- Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B. Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene. Mol Genet Metab. 2007 Feb;90(2):210-6. Epub 2006 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/17166756?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.