4jpz

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Template:STRUCTURE 4jpz

Contents

Voltage-gated sodium channel 1.2 C-terminal domain in complex with FGF13U and Ca2+/calmodulin

Disease

[SCN2A_HUMAN] Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]. An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.[1] [2] [3] [4] Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.[5] [6]

Function

[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.[7] May regulate voltage-gated sodium channels transport and function.[8] May also play a role in MAPK signaling.[9] [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 OCA.

Reference

  1. ↑ Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. PMID:11371648 doi:10.1073/pnas.111065098
  2. ↑ Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002 Sep 14;360(9336):851-2. PMID:12243921 doi:10.1016/S0140-6736(02)09968-3
  3. ↑ Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004 Apr;55(4):550-7. PMID:15048894 doi:10.1002/ana.20029
  4. ↑ Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5. PMID:20371507 doi:10.1093/brain/awq057
  5. ↑ Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc. PMID:19786696 doi:10.1212/WNL.0b013e3181b9cebc
  6. ↑ Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e. PMID:20956790 doi:10.1212/WNL.0b013e3181f8812e
  7. ↑ Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci. 2004 Jul 28;24(30):6765-75. PMID:15282281 doi:10.1523/JNEUROSCI.1628-04.2004
  8. ↑ Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci. 2004 Jul 28;24(30):6765-75. PMID:15282281 doi:10.1523/JNEUROSCI.1628-04.2004
  9. ↑ Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci. 2004 Jul 28;24(30):6765-75. PMID:15282281 doi:10.1523/JNEUROSCI.1628-04.2004

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