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- Cav2.1 abstract "The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene.Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.".
- Cav2.1 entrezgene "773".
- Cav2.1 wikiPageExternalLink NBK1140.
- Cav2.1 wikiPageExternalLink NBK1388.
- Cav2.1 wikiPageExternalLink NBK1501.
- Cav2.1 wikiPageExternalLink TOC.
- Cav2.1 wikiPageID "14303671".
- Cav2.1 wikiPageLength "11636".
- Cav2.1 wikiPageOutDegree "7".
- Cav2.1 wikiPageRevisionID "674198802".
- Cav2.1 wikiPageWikiLink CACNB4.
- Cav2.1 wikiPageWikiLink Category:Ion_channels.
- Cav2.1 wikiPageWikiLink P-type_calcium_channel.
- Cav2.1 wikiPageWikiLink Polyglutamine_tract.
- Cav2.1 wikiPageWikiLink Protein-protein_interaction.
- Cav2.1 wikiPageWikiLink Protein–protein_interaction.
- Cav2.1 wikiPageWikiLink Q-type_calcium_channel.
- Cav2.1 wikiPageWikiLink Voltage-dependent_calcium_channel.
- Cav2.1 wikiPageWikiLinkText "CACNA1A gene".
- Cav2.1 wikiPageWikiLinkText "CACNA1A".
- Cav2.1 wikiPageWikiLinkText "CaV2.1".
- Cav2.1 wikiPageWikiLinkText "Cav2.1".
- Cav2.1 wikiPageWikiLinkText "P/Q-type voltage-gated calcium channel".
- Cav2.1 hasPhotoCollection Cav2.1.
- Cav2.1 wikiPageUsesTemplate Template:Cite_book.
- Cav2.1 wikiPageUsesTemplate Template:Cite_journal.
- Cav2.1 wikiPageUsesTemplate Template:Gene.
- Cav2.1 wikiPageUsesTemplate Template:Harvnb.
- Cav2.1 wikiPageUsesTemplate Template:Ion_channels.
- Cav2.1 wikiPageUsesTemplate Template:Membrane-protein-stub.
- Cav2.1 wikiPageUsesTemplate Template:MeshName.
- Cav2.1 wikiPageUsesTemplate Template:PBB.
- Cav2.1 wikiPageUsesTemplate Template:Refbegin.
- Cav2.1 wikiPageUsesTemplate Template:Refend.
- Cav2.1 wikiPageUsesTemplate Template:Reflist.
- Cav2.1 subject Category:Ion_channels.
- Cav2.1 type Biomolecule.
- Cav2.1 type Protein.
- Cav2.1 type Biophysic.
- Cav2.1 type Channel.
- Cav2.1 type Thing.
- Cav2.1 type Q206229.
- Cav2.1 type Q8054.
- Cav2.1 comment "The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene.Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits.".
- Cav2.1 label "Cav2.1".
- Cav2.1 sameAs CACNA1A.
- Cav2.1 sameAs m.03c_zcv.
- Cav2.1 sameAs Q5054720.
- Cav2.1 sameAs Q5054720.
- Cav2.1 wasDerivedFrom Cav2.1?oldid=674198802.
- Cav2.1 isPrimaryTopicOf Cav2.1.