Nav1.7 peptide (ab102727)
- ETHAhNE NahNE-Na
- hNENaNE NANENANeuroendocrine sodium channelPeripheral sodium channel 1PN1Scn9aSCN9A_HUMANSodium channel protein type 9 subunit alphaSodium channel protein type IX subunit alphaSodium channel voltage gated type IX alphaSodium channel voltage gated type IX alpha polypeptideSodium channel voltage gated type IX alpha subunitVoltage gated sodium channel alpha subunit Nav1.7Voltage gated sodium channel subunit alpha Nav1Voltage-gated sodium channel subunit alpha Nav1.7
Defects in SCN9A are the cause of congenital indifference to pain autosomal recessive (CIPAR) [MIM:243000]; also known as channelopathy-associated insensitivity to pain. A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating.
Defects in SCN9A are a cause of paroxysmal extreme pain disorder (PEPD) [MIM:167400]; previously known as familial rectal pain (FRP). PEPD is an autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing.
Defects in SCN9A are a cause of generalized epilepsy with febrile seizures plus type 7 (GEFS+7) [MIM:604233]. GEFS+7 is a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Defects in SCN9A are the cause of familial febrile convulsions type 3B (FEB3B) [MIM:604403]. FEB3B consists of seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
Contains 1 IQ domain.
modificationsUbiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated by NEDD4.
References for Nav1.7 peptide (ab102727)
ab102727 has not yet been referenced specifically in any publications.