4jpz: Difference between revisions
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{{STRUCTURE_4jpz| PDB=4jpz | SCENE= }} | |||
===Voltage-gated sodium channel 1.2 C-terminal domain in complex with FGF13U and Ca2+/calmodulin=== | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/SCN2A_HUMAN SCN2A_HUMAN]] Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:[http://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:[http://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> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FGF13_HUMAN FGF13_HUMAN]] Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus.<ref>PMID:15282281</ref> May regulate voltage-gated sodium channels transport and function.<ref>PMID:15282281</ref> May also play a role in MAPK signaling.<ref>PMID:15282281</ref> [[http://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. | |||
==About this Structure== | |||
[[4jpz]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JPZ OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Chung, B C.]] | |||
[[Category: Hennessey, J A.]] | |||
[[Category: Lee, S Y.]] | |||
[[Category: Pitt, G S.]] | |||
[[Category: Wang, C.]] | |||
[[Category: Ef hand and iq motif]] | |||
[[Category: Ion channel]] | |||
[[Category: Membrane]] | |||
[[Category: Transport protein]] | |||