This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Sodium channel protein type 5 subunit alpha.
It is a tetrodotoxin-resistant Na(+) channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential.
Human | |
---|---|
Gene Name: | SCN5A |
Uniprot: | Q14524 |
Entrez: | 6331 |
Belongs to: |
---|
sodium channel (TC 1.A.1.10) family |
cardiac sodium channel alpha subunit; cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; CDCD2VF1; HB1sodium channel, voltage-gated, type V, alpha (long QT syndrome 3); HB2; HBBD; HH1CMD1E; ICCD; IVF; LQT3SSS1CMPD2; Nav1.5; PFHB1; Sodium channel protein cardiac muscle subunit alpha; sodium channel protein type 5 subunit alpha; sodium channel protein type V alpha subunit; Sodium channel protein type V subunit alpha; sodium channel, voltage-gated, type V, alpha subunit; Voltage-gated sodium channel subunit alpha Nav1.5
Mass (kDA):
226.94 kDA
Human | |
---|---|
Location: | 3p22.2 |
Sequence: | 3; NC_000003.12 (38548061..38649687, complement) |
Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain.
Cell membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Cell membrane, sarcolemma, T-tubule. RANGRF promotes trafficking to the cell membrane.
Getting High-affinity primary antibodies is a key part of protein research, but what are the best uses of the SCN5A marker? Boster Bio has high-affinity antibody and other high quality biological tools for your research. Boster Bio's high-affinity prima antibodies are the gold standard of protein research. Boster Bio offers a variety to meet your needs.
High-affinity primary antibodies using the Scn5A marker are available as a reagent. These antibodies target SCN5A mutated genes and provide enhanced specificity for gene transcription studies. Mutations in LaminA/C, a subunit within PRC2, regulate the SCN5A genes. We found an increase in binding of K219T/Lamin A/C to Scn5A's promoter, compared to wild-type LaminA/C. We also found an increase in H3K27me3 and SUZ12me3 depositions.
SCN5A can be described as a subunit of a multimeric complex of membrane proteins. It contains poreforming a and smaller, nonpore-forming B subunits. It has been shown to be expressed in metastatic cancer cells of many types. The SCN5A subunit, which was found to be expressed in breast cancer cell lines, is associated with a high affinity immune response.
SCN5A expression is higher in BCa samples so the reagent could detect BCa and predict future recurrence. The antigen has a high correlation with lymph node metastasis and subsequent recurrence. SCN5A expression is associated also with a higher likelihood for metastasis in comparison to other types BCa.
Another study revealed that SCN5A was associated to a higher risk for future cardiac events in BrS patients who had SCN5A (+). However, genetic testing was not indicated without a genotyped proband and a diagnostic ECG. SCD and VF patients had a lower SCN5A rate than SCN5A+ BrS.
These primary antibodies of high affinity used the SCN5A signal in skeletal and cardiac muscle. These antibodies could be diluted in PBS, 0.1% BSA, or 1% foetus bovine serum. High-affinity primary antibody using the SCN5A marker showed excellent specificity in mouse, human and rat cardiac tissues. The authors would like to thank you for your support. It is very important to thank you for all the work you do! We are so grateful to you for using the SCN5A markers in this study. We hope it will be useful for you!
The SCN5A genome encodes Nav1.5. It is a part of the voltage–gated sodium channel family. It is a family of at least 10 genes. The SCN5A gene encodes the Nav1.5 protein, a protein associated with cardiac electrical disorders. In addition to this, the SCN5A gene is also related to several cardiac diseases.
SCN5A, a common gene, has been the subject genome-wide association studies and candidate gene studies. However, it is difficult to attribute the disease to a large enough number of families. However, evidence of a causal role for this gene variant depends on large enrichment in variants in patient cohorts, segregation tests within families, functional characterization, and segregation testing within families. It is difficult to attribute rare variants of unknown phenotypes to pathogenicity.
SCN5A, a gene that spans more 100kb on human chromosome 3,p22, is called. It contains 28 exons. The 5' untranslated segment (5' UTR) is formed by exon 1. Foxo1, NFKappaB, TBX5 and a special set of transcription factors are used to express the SCN5A genes in the heart. The SCN5A gene is synthesized in the atrioventricular, cardiac and pulmonary regions of the brain.
MEPPC patients can be identified using the SCN5A marker. The SCN5A gene is highly prevalent in the general population. Single nucleotide polymorphisms within the SCN5A code region are common in this gene. Numerous variants can cause conduction problems in healthy individuals as well as increase arrhythmia risk among carriers of the SCN5A mutant.
The SCN5A Gene is essential to cardiac function. It regulates sodium channels activity through NaV1.5. It is involved in cardiac electrophysiology and has been linked to multiple inherited arrhythmia syndromes. Genetic variation in SCN5A has also been linked with variations in electrocardiogram-parameters. These findings have made patient care much more efficient, but many questions remain.
SCN5A gene variants have been associated structural heart disease. This has dilated the chambers, caused pump failure and high incidences of arrhythmia. These mutations are still unknown. The SCN5A genetic mutation can be found in many animals, including humans, birds and platypus. This gene is highly conserved. Many of its variants are heterozygous.
The SCN5A gene consists of two exons, SCN5A-014 and SCN10A. These genes are 60kb in distance on chr3p22. Both genes encode the Nav1.8 gene. However, SCN5A transcripts were not detected in ventricular tissues above the detection limit of RNA sequence. Its role in cardiomyocytes is unknown.
PMID: 1309946 by Gellens M.E., et al. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.
PMID: 12358675 by Ou Y., et al. SCN5A is expressed in human jejunal circular smooth muscle cells.