Cav2.1

The Ca_v2.1 P/Q voltage-dependent calcium channel is encoded by the gene|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. [cite web | title = Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=773| accessdate = ]

References

Further reading

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citations =
*cite journal | author=Terwindt G, Kors E, Haan J, "et al." |title=Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. |journal=Arch. Neurol. |volume=59 |issue= 6 |pages= 1016–8 |year= 2002 |pmid= 12056940 |doi=
*cite journal | author=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411–25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5
*cite journal | author=Perez-Reyes E, Castellano A, Kim HS, "et al." |title=Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel. |journal=J. Biol. Chem. |volume=267 |issue= 3 |pages= 1792–7 |year= 1992 |pmid= 1370480 |doi=
*cite journal | author=Barry EL, Viglione MP, Kim YI, Froehner SC |title=Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells. |journal=J. Neurosci. |volume=15 |issue= 1 Pt 1 |pages= 274–83 |year= 1995 |pmid= 7823133 |doi=
*cite journal | author=Joutel A, Bousser MG, Biousse V, "et al." |title=A gene for familial hemiplegic migraine maps to chromosome 19. |journal=Nat. Genet. |volume=5 |issue= 1 |pages= 40–5 |year= 1993 |pmid= 8220421 |doi= 10.1038/ng0993-40
*cite journal | author=Margolis RL, Breschel TS, Li SH, "et al." |title=Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. |journal=Somat. Cell Mol. Genet. |volume=21 |issue= 4 |pages= 279–84 |year= 1996 |pmid= 8525433 |doi=
*cite journal | author=Rettig J, Sheng ZH, Kim DK, "et al." |title=Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 14 |pages= 7363–8 |year= 1996 |pmid= 8692999 |doi=
*cite journal | author=Diriong S, Lory P, Williams ME, "et al." |title=Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits. |journal=Genomics |volume=30 |issue= 3 |pages= 605–9 |year= 1997 |pmid= 8825650 |doi= 10.1006/geno.1995.1284
*cite journal | author=Ophoff RA, Terwindt GM, Vergouwe MN, "et al." |title=Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. |journal=Cell |volume=87 |issue= 3 |pages= 543–52 |year= 1996 |pmid= 8898206 |doi=
*cite journal | author=Zhuchenko O, Bailey J, Bonnen P, "et al." |title=Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 62–9 |year= 1997 |pmid= 8988170 |doi= 10.1038/ng0197-62
*cite journal | author=De Waard M, Liu H, Walker D, "et al." |title=Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. |journal=Nature |volume=385 |issue= 6615 |pages= 446–50 |year= 1997 |pmid= 9009193 |doi= 10.1038/385446a0
*cite journal | author=Qin N, Platano D, Olcese R, "et al." |title=Direct interaction of gbetagamma with a C-terminal gbetagamma-binding domain of the Ca2+ channel alpha1 subunit is responsible for channel inhibition by G protein-coupled receptors. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 16 |pages= 8866–71 |year= 1997 |pmid= 9238069 |doi=
*cite journal | author=Riess O, Schöls L, Bottger H, "et al." |title=SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1289–93 |year= 1997 |pmid= 9259275 |doi=
*cite journal | author=Jodice C, Mantuano E, Veneziano L, "et al." |title=Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1973–8 |year= 1998 |pmid= 9302278 |doi=
*cite journal | author=Charvin N, L'evêque C, Walker D, "et al." |title=Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel. |journal=EMBO J. |volume=16 |issue= 15 |pages= 4591–6 |year= 1997 |pmid= 9303303 |doi= 10.1093/emboj/16.15.4591
*cite journal | author=Ishikawa K, Tanaka H, Saito M, "et al." |title=Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. |journal=Am. J. Hum. Genet. |volume=61 |issue= 2 |pages= 336–46 |year= 1997 |pmid= 9311738 |doi=
*cite journal | author=Walker D, Bichet D, Campbell KP, De Waard M |title=A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. |journal=J. Biol. Chem. |volume=273 |issue= 4 |pages= 2361–7 |year= 1998 |pmid= 9442082 |doi=
*cite journal | author=Yue Q, Jen JC, Thwe MM, "et al." |title=De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. |journal=Am. J. Med. Genet. |volume=77 |issue= 4 |pages= 298–301 |year= 1998 |pmid= 9600739 |doi=
*cite journal | author=Hans M, Urrutia A, Deal C, "et al." |title=Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels. |journal=Biophys. J. |volume=76 |issue= 3 |pages= 1384–400 |year= 1999 |pmid= 10049321 |doi=
*cite journal | author=Walker D, Bichet D, Geib S, "et al." |title=A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation. |journal=J. Biol. Chem. |volume=274 |issue= 18 |pages= 12383–90 |year= 1999 |pmid= 10212211 |doi=

External links

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