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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.
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.
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.
Cytogenetic Location: 3q26.1-q26.2
Molecular Location on chromosome 3: base pairs 165,772,903 to 165,837,471
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 165,772,903 to base pair 165,837,471 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BCHE helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; breakdown ; compound ; deficiency ; enzyme ; esters ; gene ; muscle relaxant ; precursor ; protein ; sensitivity ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.