LP93354-6
SCN5A gene
Active
Description
The SCN5A gene (sodium channel, voltage gated, type V alpha subunit) [HGNC Gene ID:10593] is located on chromosome 3p21. The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6331] 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
- SCN5A gene
- Part Display Name
- SCN5A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-02-25
- Construct for LOINC Short Name
- SCN5A 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) | SCN5A 基因 Synonyms: CDCD2; |
| et-EE | Estonian (Estonia) | SCN5A geen |
| es-ES | Spanish (Spain) | Gen SCN5A |
| it-IT | Italian (Italy) | SCN5A, gene Synonyms: Gene SCN5A |
| tr-TR | Turkish (Turkey) | SCN5A geni |
| ru-RU | Russian (Russian Federation) | SCN5A ген |
| nl-NL | Dutch (Netherlands) | SCN5A-gen Synonyms: SCN5A gen |
| fr-FR | French (France) | SCN5A gène |
| pl-PL | Polish (Poland) | SCN5A gen Synonyms: Gen SCN5A |
| el-GR | Greek (Greece) | Γονίδιο SCN5A Synonyms: Γονίδιο SCN5A |
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://