Gene Symbol | SCN9A |
Entrez Gene ID | 6335 |
Full Name | sodium voltage-gated channel alpha subunit 9 |
Synonyms | ETHA,FEB3B,GEFSP7,HSAN2D,NE-NA,NENA,Nav1.7,PN1,SFNP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]. |
Disorder MIM: | |
Disorder Html: | Erythermalgia, primary, 133020 (3); Paroxysmal extreme pain disorder, 167400, (3); Insensitivity to pain, congenital, 243000 (3); Febrile seizures, familial, 3B, 613863 (3); Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3); Small fiber neuropathy, 133020 (3); {Dravet syndrome, modifier of}, 607208 (3); HSAN2D, autosomal recessive, 243000 (3) |