SCN2A Antibodies

Sodium channel protein type 2 subunit alpha (SCN2A)

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.

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Gene Information

Human
Gene Name:	SCN2A
Uniprot:	Q99250
Entrez:	6326

Family

Belongs to:
sodium channel (TC 1.A.1.10) family

Alternative Names

Sodium channel protein type 2 subunit alpha

Molecular Weight

Mass (kDA):
227.975 kDA

Genomic Context

Human
Location:	2q24.3
Sequence:	2; NC_000002.12 (165208056..165392310)

Subcellular Localizations

Cell membrane; Multi-pass membrane protein.

PTMs

• Disulfide bond
• Glycoprotein

• Isopeptide bond
• Phosphoprotein

• Ubl conjugation

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/SCN2A

Boster Bio: Best Uses Of The SCN2A Marker

Boster scientists are experts in SCN2A gene pathology as well as SCN2A-related genes. They are able to submit their research results to receive product credits. This service is available to scientists around the world and includes submissions of species-specific samples and applications. Boster Bio Best Uses For The SCN2A Marker

Sodium channel subunit beta-2 SCN2B

The sodium channel subunit beta-2 (SCN2B) markers are a powerful instrument for identifying cells that are contaminated by toxicants. The VacA toxin from Helicobacter pylori targets the anion channel to the mitochondrial membrane. Boster Bio's SCN2B marker also plays a part in bacterial toxins.

Multifunctional proteins, sodium channel isoforms, differ in their electrophysiological properties aswell the distribution of tissues. The nervous system, heart, and the muscles in the skeletal region all contain the SCN2B subunit. The mutations in particular isoforms result in tiny changes in their electrophysiological characteristics, which are linked to a variety of human illnesses. Many organs and tissues contain sodium channel genes, which include the heart, brain and peripheral nervous systems.

The beta-2 subunit of the voltage-gated sodium channels beta-2 is encoded by the SCN2B gene. The mutations in SCN2B cause channelopathies that range from severe myoclonic epilepsy to autism. It is well-known that this gene can alter the functions of other proteins in your body, including Nitric oxide synthase. It is also involved in the development of some human diseases, including Alzheimer's and schizophrenia.

Multiple cardiac arrhythmias syndromes are linked to the Nav1.5 gene. A mutation in the b-building block results in an increased late Na+ current. Inactivation results in the presence of a constant Na+ current in the plateau phase. This leads to an extended QT interval in the electrocardiogram. While the Nav1.5 gene isn't believed to be a cause for LQTS however it is associated with different types of arrhythmia.

The anti-Sodium channel subunit beta-2 SCN2b antibody from Boster Bio is made from the internals of the human SCN2B protein. It can be stored at -20°C for up to one year and is suitable for IHC and WB applications. For further information, the antibody's peptide is available for purchase at a cost. The peptide is extracted internally from the human SCN2B protein. It is available separately.

The sodium channel beta-2 SCN2B an enzyme that forms pore that is essential for the regulation of cerebral basal tone of the vascular. Bacterial Nav channels have a their structure in a domain-swapped fashion, which suggests that they are highly sensitive to sodium channel blocker TTX. The S1-S4 VSD is located next to the S5-S6 segments within the next subunit.

Boster Bio's unique SCN2B marker is SCN2B. It is a unique instrument to identify the presence of cellular toxicities. Sodium channel beta-2 is the most common Ion channel found in the brain. It is a key determinant of the human inflammatory and neuropathy pain. Its expression is regulated by the SCN2B gene, and it is possible to find novel drugs by making use of SCN2B as a marker.

The SCN2B gene is comprised of two exons. One exon is home to an in-frame stop codon. The other exon encodes the 2-domain protein that is truncated. Both SCN2B variants differ by RNA-splicing. Both variants have been found to be different from one another. It isn't clear whether the phosphorylation of SCN2B would influence Sodium Channel Beta-2 activity.

Clinical applications

The SCN2A protein marker is a key component in the sodium channel's activity. Its mutations are associated with a wide range of epileptic conditions, including early infantile seizures and more severe subtypes, such as those involving intellectual disability and autistic traits. The SCN2A marker may one day be used to understand the genetics of counseling and pharmacological therapies.

The SCN2A marker is a way to determine children with this genetic disorder. It is used to identify patients with neuromuscular junctional disorders. This marker can also be used to identify neurological disorders such as epilepsy and Parkinson's disease. The SCN2A gene is responsible for a variety of different disorders, including autism spectrum disorder movements disorders, autism spectrum disorder, and epilepsy. The SCN2A gene is present in all human brains, even those with a deficiency in the gene.

In the study, SCN2A mRNA expression was reduced in patients with schizophrenia. This result was linked to significant interactions between genotypes and the PFC of patients suffering from schizophrenia and controls. Although the effects of these findings were low but the positive correlation between schizophrenia and controls were strong enough to justify them. The results were consistent with the results of mRNA and cognitive imaging studies. However, there are some limitations.

Based on GWAS results According to the GWAS results, schizophrenia is associated with the SCN2A gene. The results showed an enticing association between schizophrenia, two linked intronic SNPs from SCN2A. These two intronic SNPs made up 10.4% of the variance in g, and the results did not show evidence of an over-inflation of test results due to the effects of population. People who were homozygous to the major C allele had the least impaired performance in comparison to those who were heterozygous for the C allele.

High-throughput SCN2A experiments can speed up the process of discovering new drugs. A 384-well plate design could test the effects of two drugs simultaneously, and hyperpolarized voltages can be used to stop gain-of-function mutations. These advances will enable researchers to identify homogeneous populations for drug trials. A high-throughput SCN2A study could provide vital data for drug discovery.

The SCN2A gene encodes a protein called Nav1.2, which plays a vital role in propagation of action potentials. The protein is abundant in the adult central nervous system specifically in excitatory glutamatergic neurons of the cortex or hippocampus. Although SCN2A is associated with epilepsy, it is not the one that can cause the condition. If you're unsure whether SCN2A is affected, consult your doctor.

Studies of a large scale have demonstrated that the SCN2A marker is helpful in the early diagnosis of schizophrenia and epilepsy. Recent research has demonstrated that mice that have SCN2A mutations display abnormal behavior, but they are not affected by SCZ. Further studies have found mutations in SCN2A in patients suffering from SCZ. While there are a few important limitations in the SCN2A marker, its potential for early diagnosis and effective treatment are significant.

Pathogenic SCN2A variants

Five patients were identified to have pathogenic SCN2A variants. They displayed phenotypes which resembled early-onset EE and ID without seizures. Other researchers have thoroughly studied one variant of BFNIE. In 2004, Kamiya et al. published the case of a child with early-onset EE. To determine the p.R102* variant, they employed targeted sequencing of SCN2A and also trio whole-exome sequencing.

SCN2A has been linked to epilepsy for a long period of time. However recent research has demonstrated that mutations in this gene may also be associated with neurodevelopmental disorders , like schizophrenia. It is hard to determine the disease-causing variant of SCN2A because it is difficult to establish the association between pathogenic and asymptomatic variants. This study offers new insights on the role of SCN2A in epilepsy.

Some disease-related SCN2A variants correspond to the interface between S4 and S5 segments of repeats that are adjacent. These variants can disrupt sodium channel function, causing range of developmental and behavioral issues. Epilepsy is more common among those suffering from pathogenic SCN2A. This condition affects children in their early years of development. There are many treatments for epilepsy, regardless of the potential risk.

The mutation of SCN2A can lead to many different phenotypes, including autism and developmental disorders. Certain patients will experience benign epilepsy that is familial in nature, while others will have seizures and serious developmental delays. Some patients will exhibit multiple phenotypes. Doctors can utilize molecular genetics to help them determine which variants are most likely to cause autism or other disorders.

Three phenotypes were caused by the BFNIE mutation in this study. Three patients with early-onset epileptic seizures were affected by variant W1716*. Two unrelated patients were not affected by seizures. While it predicted structural impairments, the second variant was not recognized by WES analysis. BFNIE syndrome patients with severe symptoms exhibit more severe symptoms than those without the condition.

Seizures triggered by SCN2A-related disorders can occur in infancy, or even in the first year. Alternatively, seizures may occur later in childhood. Seizures due to SCN2A-related SCN2A variations can also occur later in life. However genetic tests are often required to confirm a diagnosis. A person with SCN2A-related epilepsy may experience various types of seizures throughout their life.