Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

SCN5A gene
Synonyms
Definitions

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]

ID

http://www.drugtargetontology.org/dto/DTO_01200297

definition

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]

entrez_xref

6331

geneSymbol

SCN5A

label

SCN5A gene

prefixIRI

dto:DTO_01200297

prefLabel

SCN5A gene

subClassOf

http://www.drugtargetontology.org/dto/DTO_01400471

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