2d46

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Template:STRUCTURE 2d46

Contents

Solution Structure of the Human Beta4a-A Domain

Template:ABSTRACT PUBMED 16385006

Disease

[CACB4_HUMAN] Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9) [MIM:607682]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.[1] Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:607682]. EJM6 is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:613855]. EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.[2]

Function

[CACB4_HUMAN] The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

About this Structure

2d46 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See Also

Reference

  • Vendel AC, Rithner CD, Lyons BA, Horne WA. Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit. Protein Sci. 2006 Feb;15(2):378-83. Epub 2005 Dec 29. PMID:16385006 doi:10.1110/ps.051894506
  1. ↑ Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. Epub 2000 Apr 4. PMID:10762541 doi:S0002-9297(07)62983-8
  2. ↑ Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. Epub 2000 Apr 4. PMID:10762541 doi:S0002-9297(07)62983-8

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