SCN11A Antibodies

Sodium channel protein type 11 subunit alpha (SCN11A)

This protein 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 sodium ions may pass in accordance with their electrochemical gradient.

It's a tetrodotoxin-resistant sodium channel isoform. Also involved, together with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.

Gene Information

Human
Gene Name:	SCN11A
Uniprot:	Q9UI33
Entrez:	11280

Family

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

Alternative Names

hNaN; NaN; Nav1.9; Peripheral nerve sodium channel 5; PN5; SCN12A; SNS2; SNS-2; sodium channel, voltage-gated, type XI, alpha polypeptide; sodium channel, voltage-gated, type XI, alpha subunit; sodium channel, voltage-gated, type XII, alpha; voltage-gated sodium channel Nav1.9; Voltage-gated sodium channel subunit alpha Nav1.9; voltage-gated, type XII, alpha polypeptide

Molecular Weight

Mass (kDA):
204.922 kDA

Genomic Context

Human
Location:	3p22.2
Sequence:	3; NC_000003.12 (38845764..39051944, complement)

Tissue Specificity

Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.

Subcellular Localizations

Cell membrane; Multi-pass membrane protein.

Diseases

• Pain
• Neuralgia
• Inflammation
• Hyperalgesia
• Nerve Damage
• Nervousness
• Peripheral Nerve Injuries
• Peripheral Neuropathy
• Chronic Pain
• Colitis
• Neuroblastoma

• Spinal Cord Injuries
• Pulpitis
• Spinal Pain
• Hyperalgesias, Mechanical
• Stenosis
• Visceral Pain

Pathways

• Hypersensitivity
• Localization
• Sensitization
• Innervation
• Synaptic Transmission
• Transport
• Thermoception
• Cell Adhesion
• Gene Silencing
• Glycosylation
• Inner Ear Development

• Reflex
• Reverse Transcription
• Ear Development
• Cell Differentiation
• Hair Cell Differentiation
• Pathogenesis

PTMs

• Glycosylation

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/SCN11A

Best Uses Of The SCN11A Marker

SCN11A p.R222H was found to be frequently present in Japanese patients suffering from Familial episodic limb pain. This article describes its clinical application. You can read more about SCN11A in Molecular Genetics and Pathology. If you're interested in learning more about SCN11A as well as its best uses, keep reading!

Patients with Familial episodic pain in the limbs in Japan often experienced SCN11A.

FEPS3 has been reported in 21 Japanese cases. All of these cases are caused by mutations within the sodium voltage-gated channels alpha subunit 11A genes. While symptoms may appear at a different age, the majority of cases are inherited from one parent. Genetic studies have shown that patients' pain was inherited by their maternal family. One case showed that two heterozygous SCN11A mutations caused episodic limb ache.

Although the child's parents are not close friends, 19 of his family members suffered from the same symptoms over three generations. The patient's mother was 37 and had suffered from limb discomfort since childhood. The pain was often felt at night. Although there were no underlying medical conditions, the patient complained of pain attacks at least once a year. Pain attacks lasted about 30-60 minutes and interfered with her sleep.

The symptoms of this disorder were often shared by family members of the affected person, including low back pain and numbness, pollakisuria and blurred vision. 23 Japanese patients suffering from episodic, familial limb pain were found to be affected by the SCN11A mutation p.R222H.

Additionally, patients affected experienced pain episodes ranging from four to eight times per hour. These attacks were often aggravated by physical exertion or fatigue and lasted less than 20 minutes. The patients were treated with anti-inflammatory analgesic drugs, as well as a hot compress. The electroencephalogram revealed no abnormalities and the limbs were checked for nerve lesions.

These findings suggest that a significant number of patients suffering from this disorder have a SCN11A. Further research is needed to determine if these mutations have an impact on limb pain. Stable NaV1.9 cell lines should also be studied. Many Japanese patients may have familial episodic limb problems. However, they do not have the SCN11A mutation p.R222H.

Clinical Applications

The SCN11A marker is a genetic variant. Mutations in this gene can cause a decrease in excitability or depolarizing block in the Nav1.7 and/or Nav1.8 subunits. There are 20 reported mutations in SCN11A, most of which result in a gain of function. However, none have been reported as causing loss of function. Patients with mild mutations may not feel any pain and may be able live their lives without ever visiting a doctor.

Both parents inherit the SCN11A gene. Patients with SCN11A mutations have a reduced rate of bowel movement and are more likely to suffer from chronic constipation. Genetic testing is highly sensitive and specific, even though it may seem difficult to diagnose disease from this genetic marker. A SCN11A mutation in one parent can cause constipation in a child suffering from an autosomal dominant condition like PEM.

The SCN11A marker is a genetic variant of a sodium channel in the small-diameter dorsal root ganglia of mice. Mice with global Scn11a gene deletion have a decreased scratching reaction. The L799P variant of mice heterozygous for this mutation showed an amplified scratching response even during rest.

SCN11A has identified several de novo mutations. In one instance, severe epilepsy was associated with this gene mutation. It is possible that the disease is caused by a dominant-negative mutation, which may have resulted from cytoskeletal interactions. Although the mechanism of the SCN11A marker being linked to autism has not been determined. It is a good marker for epilepsy detection.

In CPP, SCN11A is the only gene that can affect this neuropeptide. TAC1 codes for neuropeptide substance P. TAC1 can also be involved in thermal and mechanical hypersensitivity. The clinical potential of the SCN11A gene marker is numerous. There are three families that have the mutation. The mutation has been found in three families. The mutation did not affect any of the other two families. The SCN11A genes are a reliable genetic marker for epilepsy.

Molecular Genetics

Molecular Genetics identifies a rare, heterozygous mutation in SCN11A gene using the SCN11A marker. This mutation results in the de novo substitution of leu811 to pro in the domain 2 of the channel gate. The mutation was not detected in dbSNP Build 135 and was only discovered after sequencing. This mutation was not found within the 1000 Genomes Project or Exome Variant Server genomes. However, it was detected in one Swedish patient.

This gene was used in association with SCN11A to show that the L811P variant reduced mice's scratching ability. Mice with a global Scn11A genetic knockout showed reduced scratching behavior. However mice heterozygous of the L799P mutation had an increased scratching ability, regardless of whether they were resting. These studies show that this gene is involved peripheral inflammatory painful hypersensitivity.

Researchers can identify whether a particular person has the SCN11A genome marker. This marker is used in forensic and legal matters. Molecular Genetics is a powerful tool to analyze DNA sequences. This marker can be used in a sequence of DNA to help identify individuals' ancestral relatives, determine their health risk, and investigate the role that genetic markers play in human disease.

The SCN11A gene is the most commonly studied and has been associated with many diseases. Its variation has been linked to common neuropathic symptoms. Its role in determining the cause of pain in humans remains unclear, but genetic data can provide valuable information for advancing our understanding of disease. This discovery will improve diagnostics of acute and chronic pain disorders. It is a promising tool in investigating the causes behind human pain.

Molecular Pathology

The SCN11A gene encodes a voltage-gated sodium channel and is highly expressed in the dorsal root ganglia and trigeminal ganglia. It is a central component in peripheral inflammatory pain hypersensitivity. We will discuss the findings from Huang et.al. Using DNA from one Swedish patient. We also discuss the implications of our results for local anesthetics.

SCN11A mutations are found in the brain's gene. This is evident by the appearance of a skin cancer. These mutations can cause a shortening of the QT interval that can lead to progressive cardiac conditions such as atrial stoppage and torsades. This mutation may be inherited, or developed during adolescence. The SCN11A gene marker has been used extensively for decades and its expression levels have risen since the 1960s.

SCN11A is one of the genes that has been associated with this condition. The gene is located on chromosome 3p24-p21. It colocalizes to the SCN5A and SCN10A genes, supporting the notion that these three sodium channel gene families share a common lineage. Gross (2013) also assigned SCN11A, the human SCN11A, to chromosome 22.2. SCN11A was mapped to Chrom 9 by interspecific cross.

SCN11A is a sodium channel found in small dorsal root ganglia. It is responsible the sodium transmission through the body's cells. It is an important component of the excitable GABA (GABA), which is essential for normal motor or sensory function. Interestingly, it is associated with autism. Molecular Pathology with SCN11A