Version 2.78

Description

The SCN1A gene (sodium channel, voltage gated, type I alpha subunit) [HGNC Gene ID:10585] is located on chromosome 2q24.3. The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011] [NCBI Gene ID:6323] 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 Display Name
SCN1A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-07-11
Construct for LOINC Short Name
SCN1A gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35863-7
ConceptMap translate
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SCN1A 基因
Synonyms: GEFSP2;HBSCI;NAC1;SCN1;钠离子通道, 电压门控, I型, alpha 多肽基因;钠离子通道, 电压门控, I型, α多肽基因;钠离子通道, 电压门控型, I型, alpha 多肽基因;钠离子通道, 电压门控型, I型, α多肽基因;钠离子通道, 电压门控式, I型, alpha 多肽基因;钠离子通道, 电压门控式, I型, α多肽基因;钠离子通道, 电压门控性, I 型, alpha 多肽基因;钠离子通道, 电压门控性, I 型, α多肽基因;钠离子通道蛋白, 大脑 I 型 alph
et-EE Estonian (Estonia) SCN1A geen
es-ES Spanish (Spain) Gen SCN1A
it-IT Italian (Italy) SCN1A, gene
Synonyms: Gene SCN1A
tr-TR Turkish (Turkey) SCN1A geni
ru-RU Russian (Russian Federation) SCN1A ген
nl-NL Dutch (Netherlands) SCN1A-gen
Synonyms: SCN1A gen