Recombinant Human Sodium channel protein type 11 subunit alpha (SCN11A), partial

1. We identified a missense mutation of p.Arg225Cys in SCN11A in a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor syndrome. PMID: 28298626
2. SCN11A single-nucleotide polymorphisms affect Postoperative pain sensitivity in Chinese Han women after Gynecological surgery. The SNP rs33985936 and rs13080116 may serve as novel predictors for Postoperative pain. PMID: 28953656
3. a U-shaped relationship between the resting potential and the neuronal action potential threshold explains why NaV1.9 mutations that evoke small degrees of membrane depolarization cause hyperexcitability and familial episodic pain disorder or painful neuropathy, while mutations evoking larger membrane depolarizations cause hypoexcitability and insensitivity to pain. PMID: 28530638
4. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. PMID: 27224030
5. Results show the expression of Nav1.9 channels within the human colon for the first time. Furthermore, Nav1.9 channel expression is decreased in Hirschsprung's disease versus normal controls. PMID: 27297039
6. autosomal dominant Congenital insensitivity to pain reflects the second gain-of-function mutation of SCN11A. PMID: 26746779
7. A missense mutation (p.V1184A) in NaV1.9 leads to cold-aggravated peripheral pain. PMID: 26645915
8. A G699R substitution in the Nav1.9 domain II S4-S5 linker renders dorsal root ganglion neurons hyperexcitable, via depolarized resting membrane potential, reduced current threshold and increased evoked firing in small-fiber neuropathy. PMID: 25791876
9. missense mutations of Nav1.9 in individuals with painful peripheral neuropathy PMID: 24776970
10. The results demonstrate that Nav1.8 and Nav1.9 are present in human lingual nerve neuromas, with significant correlations between the level of expression of Nav1.8 and symptoms of pain. PMID: 24144460
11. 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. PMID: 24036948
12. Gain-of-function mutations in SCN11A can be causative of an autosomal-dominant episodic pain disorder. PMID: 24207120
13. Results provide evidence that Nav1.9 plays a crucial role in the generation of heat and mechanical pain hypersensitivity, both in subacute and chronic inflammatory pain models. PMID: 21857998
14. we demonstrate that the tetrodotoxin-insensitive sodium channel Na(V)1.9 underlies the neurotrophin-evoked excitation PMID: 12384689

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HGNC: 10583

OMIM: 604385

KEGG: hsa:11280

STRING: 9606.ENSP00000307599

UniGene: Hs.591657