Dec 25, 2024 · SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include Episodic Pain Syndrome, Familial, 3 and Neuropathy, Hereditary Sensory And Autonomic, Type Vii. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Sodium channel, voltage-gated, type XI, alpha subunit also known as SCN11A or Na v 1.9 is a voltage-gated sodium ion channel protein which is encoded by the SCN11A gene on chromosome 3 in humans. [5] [6] Like Na v 1.7 and Na v 1.8, Na v 1.9 plays a role in pain perception.

Feb 8, 2025 · we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe mutilations. Gain-of-function mutations in SCN11A can be causative of an autosomal-dominant episodic pain disorder.

By using whole-exome sequencing followed by conventional Sanger sequencing, we identified two missense mutations in the gene encoding voltage-gated sodium channel Na v 1.9 (SCN11A): c.673C>T (p.Arg225Cys) and c.2423C>G (p.Ala808Gly) (one in each family).

The SCN11A gene encodes a voltage-gated sodium channel that is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia and is a major effector of peripheral inflammatory pain hypersensitivity (summary by Zhang et al., 2013).

The blue column indicates SCN11A, the yellow column indicates SCN10A, and the green column indicates SCN9A. Four frequent complaints or complications—migraine, gastrointestinal symptoms, muscle symptom, and feeling of coldness in limbs—were characterized in all cohorts and subgroups.

Dec 10, 2024 · Clinical resource with information about SCN11A, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7, Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence., and available tests.

Sep 15, 2013 · Using exome sequencing, we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and...

Research over the last 20 years has provided valuable insights into the critical roles that two channels, Na V 1.7 and Na V 1.9, play in pain signalling in man. Gain of function mutations in Na V 1.7 cause painful conditions while loss of function mutations cause …

Nov 2, 2024 · Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle.

Jun 21, 2024 · Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed as key determinants of nociceptor excitability in primary sensory neurons.

Using exome sequencing, we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe mutilations.

Na v 1.9 (gene name SCN11A) is a tetrodotoxin-resistant (TTX-r), so-called persistent Na + current, with clear evidence for functional expression in nociceptive primary sensory neurons in the dorsal root ganglia (DRG) and trigeminal (e.g. [6, 23]), and the AH cells of the myenteric plexus in the gut [18, 102].

Jul 20, 2018 · In this study, we report a family with the Arg225Cys missense mutation in SCN11A that exhibits no clinical and pathophysiologic evidence of peripheral neuropathy, but nociceptive pain. This disassociation suggests dysfunctional nociceptive neurons by the mutation.

Aug 20, 2020 · Humans with the gain-of-function mutation p.Leu811Pro in SCN11A (encoding for the voltage-gated Nav1.9 channel) exhibit congenital insensitivity to pain, pruritus, self-inflicted injuries, slow healing wounds, muscle weakness, Charcot-like …

Enables voltage-gated sodium channel activity. Involved in membrane depolarization during action potential and optic nerve development. Located in axon. Is active in glutamatergic synapse and presynaptic membrane. Human ortholog (s) of this gene implicated in familial episodic pain syndrome 3 and hereditary sensory and autonomic neuropathy type 7.

May 11, 2024 · Here, based on the Ingenuity Knowledge Base’s ingenuity pathway analysis, we found that sodium voltage-gated channel alpha subunit 11A (SCN11A) might serve as a link between low lipid levels and...

Oct 29, 2023 · This sequence change creates a premature translational stop signal (p.Arg982*) in the SCN11A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN11A cause disease.

Jun 29, 2020 · Na v 1.9 (gene name SCN11A) is a tetrodotoxin-resistant (TTX-r), so-called persistent Na + current, with clear evidence for functional expression in nociceptive primary sensory neurons in the dorsal root ganglia (DRG) and trigeminal (e.g. [6, 23]), and the AH cells of the myenteric plexus in the gut [18, 102].

Mar 22, 2021 · The SCN11A gene, encoded Nav1.9 TTX resistant sodium channels, is a main effector in peripheral inflammation related pain in nociceptive neurons. The role of SCN11A gene in the auditory system has not been well characterized.