LP97962-2
SCN4A gene
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Descriptions
Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.
The Nav1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.
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Source: Wikipedia,
SCN4A gene
The SCN4A gene (sodium channel, voltage gated, type IV alpha subunit) [HGNC Gene ID:10591] is located on chromosome 17q23.3. Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6329] 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
- SCN4A gene
- Part Display Name
- SCN4A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-11-18
- Construct for LOINC Short Name
- SCN4A 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) | SCN4A 基因 Synonyms: HYKPP; |
| et-EE | Estonian (Estonia) | SCN4A geen |
| es-ES | Spanish (Spain) | Gen SCN4A |
| it-IT | Italian (Italy) | SCN4A, gene Synonyms: Gene SCN4A |
| tr-TR | Turkish (Turkey) | SCN4A geni |
| ru-RU | Russian (Russian Federation) | SCN4A ген |
| nl-NL | Dutch (Netherlands) | SCN4A-gen Synonyms: SCN4A gen |
| fr-FR | French (France) | SCN4A gène |
| pl-PL | Polish (Poland) | SCN4A gen Synonyms: Gen SCN4A |
| el-GR | Greek (Greece) | Γονίδιο SCN4A Synonyms: Γονίδιο SCN4A |
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://