SCN5A (sodium channel. voltage-gated. type V. alpha subunit)

GWB-9E7100

1:312500

Suggested starting concentrations are provided. Optimal dilutions should be determined by end-user. Differences in calculated versus apparent molecular weight may be due to post-translational modifications or protein hydrophobicity. SCN5A is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded 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 two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.

Belongs to the sodium channel family. Summary: 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. Shah. V. N. . (2006) Proc. Natl. Acad. Sci. U. S. A. 103 (10). 3592-3597.