SCN9A

SCN9A

A gene on chromosome 2q24 that encodes an alpha subunit of the voltage-gated sodium channel, which mediates voltage-dependent sodium ion permeability of excitable membranes. The SCN9A protein product plays a major role in nociception signalling.

Molecular pathology
SCN9A mutations are associated with primary erythromelalgia, channelopathy-associated insensitivity to pain and paroxysmal extreme pain disorder.
References in periodicals archive ?
Another kind of venom--this time from a Chilean tarantula--could hold the key to alleviating pain associated with chronic conditions and an extremely rare illness called inherited erythromelalgia, which is associated with the SCN9A gene.
identified SCN9A, the gene encoding a voltage-dependent [Na.sup.+] channel expressed in nociceptive neurons, and found that it is strongly related to pain sensation in three northern Pakistan families investigated in their study [1].
A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of DravetSyndrome.PLoS Genet.
Although there have been gene mutations that trigger nerve hyperactivity and can explain some pain conditions (e.g., SCN9A gene mutation), genetic mutations or changes cannot explain the majority of cases of neuropathic pain.
The expression of 5 genes that are differentially identified in medullary carcinoma tested in the AMCs include calcitonin-related polypeptide [alpha] (CALCA), carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), secretogranin III (SCG3), sodium channel voltage-gated type IX [alpha] subunit (SCN9A), and synaptotagmin IV (SYT4).
Ahora se conoce que este padecimiento es causado por mutaciones en el gene SCN9A, que desactiva el canal Nav 1.7.
A few genetic studies have provided evidence that SCN9A genetic mutations affecting the sodium channel [Na (v) 1.7] play the essential role in congenital indifference to pain (4,14).
Scientists already knew that mutations in another gene, SCN9A, can cause congenital insensitivity to pain (SN: 6/30/12, p.
Congenital analgesia takes place as the result of a defect in the gene called "SCN9A." Even the slightest defect in this gene could render it completely useless and prevent the signals transmitted to the brain from being interpreted correctly.
For limiting the the SCN9A sodium channel, the novel chemical entity XEN402 is formulated.
In a rare familial form of EM the onset is at a juvenile age and is due to a genetic mutation in the voltage-gated sodium channel alpha-subunit gene SCN9A (OMIM 603415) [19], that is, selectively expressed in the nervous system within the dorsal root ganglion (DRG) and sympathetic ganglion neurons [20].
Studies have shown that mutations in SCN9A, which encodes the sodium channel protein Na+ (V) 1.7 subunit, are present in some patients with inherited erythromelalgia, but are rare in noninherited cases of erythromelalgia 16].