Neuromuscular HOMEepAGE
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SCN9A

sodium voltage-gated channel alpha subunit 9

2q24.3Autosomal DominantAutosomal RecessiveOMIM 133020
Also known as: ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP
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Gene Summary

RefSeq / NCBI

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]

Associated Conditions

Erythromelalgia (Erythermalgia)
Autosomal DominantSporadicAutosomal RecessiveGeneral

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.