Synthetic peptide directed towards the C terminal region of human SCN5A
Biochem/physiol Actions
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.
Sequence
Synthetic peptide located within the following region: FTKRVLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAM
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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Journal of the American Heart Association, 6(4) (2017-04-05)
We have identified the cardiomyopathy-susceptibility gene vinculin (VCL) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. We addressed whether VCL common variant D841H is associated with SUNDS. In 8 of 120 SUNDS cases, we detected
Vertebrate behavior is strongly influenced by light. Light receptors, encoded by functional opsin proteins, are present inside the vertebrate brain and peripheral tissues. This expression feature is present from fishes to human and appears to be particularly prominent in diurnal
Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS.
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