2kav: Difference between revisions

<StructureSection load='2kav' size='340' side='right'caption='[[2kav]]' scene=''>

<table><tr><td colspan='2'>[[2kav]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KAV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KAV FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>

[https://www.uniprot.org/uniprot/SCN2A_HUMAN SCN2A_HUMAN] Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:[https://omim.org/entry/607745 607745]. An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.<ref>PMID:11371648</ref> <ref>PMID:12243921</ref> <ref>PMID:15048894</ref> <ref>PMID:20371507</ref>  Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:[https://omim.org/entry/613721 613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.<ref>PMID:19786696</ref> <ref>PMID:20956790</ref>  

[https://www.uniprot.org/uniprot/SCN2A_HUMAN SCN2A_HUMAN] Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.

[[Category: Homo sapiens]]

[[Category: Arbing MA]]

[[Category: Hunt JF]]

[[Category: Levine JA]]

[[Category: Miloushev VZ]]

[[Category: Palmer AG]]

[[Category: Pitt GS]]