Specifications
Immunogen
Synthetic peptide: ETDDQSPEKIN, corresponding to Internal sequence amino acids 1548-1558 of Human Nav1.5
Target
Alternative Names
SCN5A; sodium channel, voltage-gated, type V, alpha subunit; CMD1E,sodium channel, voltage gated, type V, alpha (long QT syndrome 3); sodium channel protein type 5 subunit alpha; CDCD2; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; long QT syndrome 3; LQT3; Nav1
Product Background
Antigen Description
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.
Pathway
Axon guidance, organism-specific biosystem; Developmental Biology, organism-specific biosystem; Interaction between L1 and Ankyrins, organism-specific biosystem; L1CAM interactions, organism-specific biosystem; SIDS Susceptibility Pathways, organism-specific biosystem.
Citations
Publication ()
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