LP96329-5
BCHE gene
Active
Description
The BCHE gene (butyrylcholinesterase) [HGNC Gene ID:983] is located on chromosome 3q26.1-q26.2. Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] [NCBI Gene ID:590] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- BCHE gene
- Part Display Name
- BCHE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-08-17
- Construct for LOINC Short Name
- BCHE gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BCHE 基因 Synonyms: butyrylcholinesterase; |
| et-EE | Estonian (Estonia) | BCHE geen |
| es-ES | Spanish (Spain) | Gen BCHE |
| it-IT | Italian (Italy) | BCHE, gene Synonyms: Gene BCHE |
| tr-TR | Turkish (Turkey) | BCHE geni |
| ru-RU | Russian (Russian Federation) | BCHE клетки |
| nl-NL | Dutch (Netherlands) | BCHE-gen Synonyms: BCHE gen |
| fr-FR | French (France) | BCHE gène |
| pl-PL | Polish (Poland) | BCHE gen Synonyms: Gen BCHE |
| el-GR | Greek (Greece) | Γονίδιο BCHE Synonyms: Γονίδιο BCHE |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://