Ontology highlight
ABSTRACT:
SUBMITTER: Cox JJ
PROVIDER: S-EPMC2966863 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Cox James J JJ Sheynin Jony J Shorer Zamir Z Reimann Frank F Nicholas Adeline K AK Zubovic Lorena L Baralle Marco M Wraige Elizabeth E Manor Esther E Levy Jacov J Woods C Geoffery CG Parvari Ruti R
Human mutation 20100901 9
SCN9Aencodes the voltage-gated sodium channel Na(v)1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE). To date, all mutations in SCN9A that cause a complete inability to experience pain are protein truncating ...[more]