3bxk

<table><tr><td colspan='2'>[[3bxk]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Buffalo_rat Buffalo rat]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3BXK OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3BXK FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>

<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[3bxl|3bxl]]</div></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Calm1, Calm, Cam, Cam1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=10116 Buffalo rat])</td></tr>

== Disease ==

[[https://www.uniprot.org/uniprot/CAC1A_HUMAN CAC1A_HUMAN]] Defects in CACNA1A are the cause of spinocerebellar ataxia type 6 (SCA6) [MIM:[https://omim.org/entry/183086 183086]]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.<ref>PMID:8988170</ref> <ref>PMID:9345107</ref> <ref>PMID:9302278</ref> <ref>PMID:16325861</ref> <ref>PMID:20682717</ref> Defects in CACNA1A are the cause of familial hemiplegic migraine type 1 (FHM1) [MIM:[https://omim.org/entry/141500 141500]]; also known as migraine familial hemiplegic 1 (MHP1). FHM1, a rare autosomal dominant subtype of migraine with aura, is associated with ictal hemiparesis and, in some families, progressive cerebellar atrophy.<ref>PMID:8898206</ref> <ref>PMID:10408532</ref> <ref>PMID:11409427</ref> <ref>PMID:11439943</ref> <ref>PMID:15032980</ref> <ref>PMID:18400034</ref> Defects in CACNA1A are the cause of episodic ataxia type 2 (EA2) [MIM:[https://omim.org/entry/108500 108500]]; also known as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). EA2 is an autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.<ref>PMID:9302278</ref> <ref>PMID:8898206</ref> <ref>PMID:10987655</ref> <ref>PMID:11176968</ref> <ref>PMID:11723274</ref> <ref>PMID:12420090</ref> <ref>PMID:15293273</ref> <ref>PMID:15173248</ref> <ref>PMID:14718690</ref> <ref>PMID:18602318</ref> <ref>PMID:19232643</ref> <ref>PMID:20129625</ref> <ref>PMID:21696515</ref>

[[https://www.uniprot.org/uniprot/CAC1A_HUMAN CAC1A_HUMAN]] Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).

== References ==

<references/>

[[Category: Buffalo rat]]

[[Category: Kooi, C W.Vander]]

[[Category: Leahy, D J]]

[[Category: Mori, M X]]

[[Category: Yue, D T]]

[[Category: Acetylation]]

[[Category: Voltage-gated channel]]