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PMID:17592081

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Citation

Medeiros-Domingo, A, Kaku, T, Tester, DJ, Iturralde-Torres, P, Itty, A, Ye, B, Valdivia, C, Ueda, K, Canizales-Quinteros, S, Tusié-Luna, MT, Makielski, JC and Ackerman, MJ (2007) SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116:134-42

Abstract

Congenital long-QT syndrome (LQTS) is potentially lethal secondary to malignant ventricular arrhythmias and is caused predominantly by mutations in genes that encode cardiac ion channels. Nearly 25% of patients remain without a genetic diagnosis, and genes that encode cardiac channel regulatory proteins represent attractive candidates. Voltage-gated sodium channels have a pore-forming alpha-subunit associated with 1 or more auxiliary beta-subunits. Four different beta-subunits have been described. All are detectable in cardiac tissue, but none have yet been linked to any heritable arrhythmia syndrome.

Links

PubMed PMC3332546 Online version:10.1161/CIRCULATIONAHA.106.659086

Keywords

Amino Acid Substitution; DNA/blood; DNA/genetics; DNA/isolation & purification; Female; Genetic Predisposition to Disease; Humans; Infant; Long QT Syndrome/congenital; Long QT Syndrome/genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Reference Values; Sodium Channels/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:SCN5A

enables

GO:0044325: transmembrane transporter binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8IWT1

F

Seeded From UniProt

complete

HUMAN:SCN4B

enables

GO:0044325: transmembrane transporter binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q14524

F

Seeded From UniProt

complete

HUMAN:SCN4B

part_of

GO:0001518: voltage-gated sodium channel complex

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0010765: positive regulation of sodium ion transport

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

enables

GO:0017080: sodium channel regulator activity

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:SCN4B

enables

GO:0044325: ion channel binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q14524

F

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0060048: cardiac muscle contraction

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0060307: regulation of ventricular cardiac muscle cell membrane repolarization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0086002: cardiac muscle cell action potential involved in contraction

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

enables

GO:0086006: voltage-gated sodium channel activity involved in cardiac muscle cell action potential

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0086012: membrane depolarization during cardiac muscle cell action potential

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0086016: AV node cell action potential

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:0086091: regulation of heart rate by cardiac conduction

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN4B

involved_in

GO:2000649: regulation of sodium ion transmembrane transporter activity

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN5A

enables

GO:0044325: ion channel binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8IWT1

F

Seeded From UniProt

complete

See also

References

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