Cav2.1, also called the P/Qvoltage-dependent calcium channel, is a calcium channel found mainly in the brain.[5] Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum.[5] Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons.[5] It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits.[6] The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it.[6] Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit,[6] which is encoded by the CACNA1A gene.[a][5] Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.[5]
"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."[6]
Clinical significanceedit
Mutations in the CACNA1A gene are associated with multiple neurologic disorders, many of which are episodic, such as familial hemiplegic migraine, movement disorders such as episodic ataxia, and epilepsy with multiple seizure types.[8]
"This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. However, 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."[6]
^"CACNA1A is an abbreviation of the gene's full name, CAlcium voltage-gated ChaNnel subunit AIpha 1A, which is a description of the protein coded for by the gene."[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000141837 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000034656 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abcdeSutherland HG, Albury CL, Griffiths LR (21 June 2019). "Advances in genetics of migraine". The Journal of Headache and Pain. 20 (1): 72. doi:10.1186/s10194-019-1017-9. PMC6734342. PMID 31226929.
^"The Science of CACNA1A". CACNA1A Foundation. Retrieved 28 March 2021.
^Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.
^Walker D, Bichet D, Campbell KP, De Waard M (January 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". The Journal of Biological Chemistry. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082.
^Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, et al. (April 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". The Journal of Biological Chemistry. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211.
Further readingedit
Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M (June 2002). "Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine". Archives of Neurology. 59 (6): 1016–8. doi:10.1001/archneur.59.6.1016. PMID 12056940.
Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacological Reviews. 57 (4): 411–25. doi:10.1124/pr.57.4.5. PMID 16382099. S2CID 10386627.
Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E, Lacerda AE, et al. (January 1992). "Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel". The Journal of Biological Chemistry. 267 (3): 1792–7. doi:10.1016/S0021-9258(18)46015-2. PMID 1370480.
Barry EL, Viglione MP, Kim YI, Froehner SC (January 1995). "Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells". The Journal of Neuroscience. 15 (1 Pt 1): 274–83. doi:10.1523/JNEUROSCI.15-01-00274.1995. PMC6578292. PMID 7823133.
Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, et al. (September 1993). "A gene for familial hemiplegic migraine maps to chromosome 19". Nature Genetics. 5 (1): 40–5. doi:10.1038/ng0993-40. PMID 8220421. S2CID 6493091.
Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA (July 1995). "Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain". Somatic Cell and Molecular Genetics. 21 (4): 279–84. doi:10.1007/BF02255782. PMID 8525433. S2CID 22174220.
Rettig J, Sheng ZH, Kim DK, Hodson CD, Snutch TP, Catterall WA (July 1996). "Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25". Proceedings of the National Academy of Sciences of the United States of America. 93 (14): 7363–8. Bibcode:1996PNAS...93.7363R. doi:10.1073/pnas.93.14.7363. PMC38990. PMID 8692999.
Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S (December 1995). "Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits". Genomics. 30 (3): 605–9. doi:10.1006/geno.1995.1284. PMID 8825650.
Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, et al. (November 1996). "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4". Cell. 87 (3): 543–52. doi:10.1016/S0092-8674(00)81373-2. hdl:1765/57576. PMID 8898206. S2CID 16840573.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. (January 1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel". Nature Genetics. 15 (1): 62–9. doi:10.1038/ng0197-62. PMID 8988170. S2CID 9116828.
De Waard M, Liu H, Walker D, Scott VE, Gurnett CA, Campbell KP (January 1997). "Direct binding of G-protein betagamma complex to voltage-dependent calcium channels". Nature. 385 (6615): 446–50. Bibcode:1997Natur.385..446W. doi:10.1038/385446a0. PMID 9009193. S2CID 4287544.
Qin N, Platano D, Olcese R, Stefani E, Birnbaumer L (August 1997). "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". Proceedings of the National Academy of Sciences of the United States of America. 94 (16): 8866–71. doi:10.1073/pnas.94.16.8866. PMC23172. PMID 9238069.
Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, et al. (August 1997). "SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene". Human Molecular Genetics. 6 (8): 1289–93. doi:10.1093/hmg/6.8.1289. PMID 9259275.
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, et al. (October 1997). "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p". Human Molecular Genetics. 6 (11): 1973–8. doi:10.1093/hmg/6.11.1973. hdl:2108/35797. PMID 9302278.
Charvin N, L'evêque C, Walker D, Berton F, Raymond C, Kataoka M, et al. (August 1997). "Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel". The EMBO Journal. 16 (15): 4591–6. doi:10.1093/emboj/16.15.4591. PMC1170085. PMID 9303303.
Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, et al. (August 1997). "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". American Journal of Human Genetics. 61 (2): 336–46. doi:10.1086/514867. PMC1715894. PMID 9311738.
Walker D, Bichet D, Campbell KP, De Waard M (January 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". The Journal of Biological Chemistry. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082.
Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW (May 1998). "De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia". American Journal of Medical Genetics. 77 (4): 298–301. doi:10.1002/(SICI)1096-8628(19980526)77:4<298::AID-AJMG9>3.0.CO;2-J. PMID 9600739.
Hans M, Urrutia A, Deal C, Brust PF, Stauderman K, Ellis SB, et al. (March 1999). "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels". Biophysical Journal. 76 (3): 1384–400. Bibcode:1999BpJ....76.1384H. doi:10.1016/S0006-3495(99)77300-5. PMC1300117. PMID 10049321.
Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, et al. (April 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". The Journal of Biological Chemistry. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211.
Nikonishyna, Yuliia V.; et al. (2022). "Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia". Movement Disorders. 37 (2). Movement disorders: official journal of the Movement Disorder Society: 401–404. doi:10.1002/mds.28835. PMID 34647648. S2CID 238859984.
Further readingedit
Jen JC (May 2015) [1993]. "Familial Hemiplegic Migraine". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301295. NBK1388.
Spacey, Sian (December 2011). "Episodic Ataxia Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Episodic Ataxia Type 2. University of Washington, Seattle. PMID 20301674. NBK1501. In GeneReviews
Gomez, Christopher M (July 2013). Spinocerebellar Ataxia Type 6. University of Washington, Seattle. PMID 20301319. NBK1140. In GeneReviews
cav2, also, called, voltage, dependent, calcium, channel, calcium, channel, found, mainly, brain, specifically, found, presynaptic, terminals, neurons, brain, cerebellum, cav2, plays, important, role, controlling, release, neurotransmitters, between, neurons, . Cav2 1 also called the P Q voltage dependent calcium channel is a calcium channel found mainly in the brain 5 Specifically it is found on the presynaptic terminals of neurons in the brain and cerebellum 5 Cav2 1 plays an important role in controlling the release of neurotransmitters between neurons 5 It is composed of multiple subunits including alpha 1 beta alpha 2 delta and gamma subunits 6 The alpha 1 subunit is the pore forming subunit meaning that the calcium ions flow through it 6 Different kinds of calcium channels have different isoforms versions of the alpha 1 subunit Cav2 1 has the alpha 1A subunit 6 which is encoded by the CACNA1A gene a 5 Mutations in CACNA1A have been associated with various neurologic disorders including familial hemiplegic migraine episodic ataxia type 2 and spinocerebellar ataxia type 6 5 CACNA1AAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3BXKIdentifiersAliasesCACNA1A APCA BI CACNL1A4 CAV2 1 EA2 FHM HPCA MHP MHP1 SCA6 Cav2 1 calcium voltage gated channel subunit alpha1 A EIEE42 DEE42External IDsOMIM 601011 MGI 109482 HomoloGene 56383 GeneCards CACNA1AGene location Human Chr Chromosome 19 human 1 Band19p13 13Start13 206 442 bp 1 End13 633 025 bp 1 Gene location Mouse Chr Chromosome 8 mouse 2 Band8 C2 C3 8 40 95 cMStart85 065 268 bp 2 End85 366 875 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incerebellar hemisphereBrodmann area 23postcentral gyrusponssuperior frontal gyrusendothelial cellmiddle temporal gyrusentorhinal cortexnucleus accumbensBrodmann area 46Top expressed incerebellar cortexsuperior frontal gyruscerebellar vermisinferior colliculusprimary motor cortexspermatidpiriform cortexolfactory bulbmedial geniculate nucleusRegion I of hippocampus properMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionmetal ion binding ion channel activity voltage gated ion channel activity syntaxin binding protein binding voltage gated calcium channel activity calcium channel activity high voltage gated calcium channel activity amyloid beta bindingCellular componentcytoplasm voltage gated calcium channel complex cell projection nucleus membrane integral component of membrane plasma membrane neuronal cell bodyBiological processcalcium ion transport cell death transmembrane transport membrane depolarization during action potential regulation of ion transmembrane transport ion transport transport regulation of insulin secretion calcium ion transmembrane transport positive regulation of cytosolic calcium ion concentration membrane depolarization chemical synaptic transmission modulation of chemical synaptic transmission calcium ion import response to amyloid beta cellular response to amyloid betaSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez77312286EnsemblENSG00000141837ENSMUSG00000034656UniProtO00555P97445RefSeq mRNA NM 023035NM 000068NM 001127221NM 001127222NM 001174080NM 001252059NM 001252060NM 001252061NM 007578RefSeq protein NP 000059NP 001120693NP 001120694NP 001167551NP 075461NP 001238988NP 001238989NP 001238990NP 031604Location UCSC Chr 19 13 21 13 63 MbChr 8 85 07 85 37 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseContents 1 Function 2 Clinical significance 3 Interactions 4 Notes 5 References 6 Further reading 7 Further readingFunction edit 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 6 Clinical significance editMutations in the CACNA1A gene are associated with multiple neurologic disorders many of which are episodic such as familial hemiplegic migraine movement disorders such as episodic ataxia and epilepsy with multiple seizure types 8 This gene also exhibits polymorphic variation due to CAG n repeats Multiple transcript variants encoding different isoforms have been found for this gene In one set of transcript variants the CAG n repeats occur in the 3 UTR and are not associated with any disease However 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 6 Interactions editCav2 1 has been shown to interact with CACNB4 9 10 Notes edit CACNA1A is an abbreviation of the gene s full name CAlcium voltage gated ChaNnel subunit AIpha 1A which is a description of the protein coded for by the gene 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000141837 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000034656 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c d e Sutherland HG Albury CL Griffiths LR 21 June 2019 Advances in genetics of migraine The Journal of Headache and Pain 20 1 72 doi 10 1186 s10194 019 1017 9 PMC 6734342 PMID 31226929 a b c d e CACNA1A Gene National Center for Biotechnology Information 16 March 2021 Retrieved 28 March 2021 The Science of CACNA1A CACNA1A Foundation Retrieved 28 March 2021 Papandreou A Danti FR Spaull R Leuzzi V Mctague A Kurian MA February 2020 The expanding spectrum of movement disorders in genetic epilepsies Developmental Medicine and Child Neurology 62 2 178 191 doi 10 1111 dmcn 14407 PMID 31784983 S2CID 208498567 Walker D Bichet D Campbell KP De Waard M January 1998 A beta 4 isoform specific interaction site in the carboxyl terminal region of the voltage dependent Ca2 channel alpha 1A subunit The Journal of Biological Chemistry 273 4 2361 7 doi 10 1074 jbc 273 4 2361 PMID 9442082 Walker D Bichet D Geib S Mori E Cornet V Snutch TP et al April 1999 A new beta subtype specific interaction in alpha1A subunit controls P Q type Ca2 channel activation The Journal of Biological Chemistry 274 18 12383 90 doi 10 1074 jbc 274 18 12383 PMID 10212211 Further reading editTerwindt G Kors E Haan J Vermeulen F Van den Maagdenberg A Frants R Ferrari M June 2002 Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine Archives of Neurology 59 6 1016 8 doi 10 1001 archneur 59 6 1016 PMID 12056940 Catterall WA Perez Reyes E Snutch TP Striessnig J December 2005 International Union of Pharmacology XLVIII Nomenclature and structure function relationships of voltage gated calcium channels Pharmacological Reviews 57 4 411 25 doi 10 1124 pr 57 4 5 PMID 16382099 S2CID 10386627 Perez Reyes E Castellano A Kim HS Bertrand P Baggstrom E Lacerda AE et al January 1992 Cloning and expression of a cardiac brain beta subunit of the L type calcium channel The Journal of Biological Chemistry 267 3 1792 7 doi 10 1016 S0021 9258 18 46015 2 PMID 1370480 Barry EL Viglione MP Kim YI Froehner SC January 1995 Expression and antibody inhibition of P type calcium channels in human small cell lung carcinoma cells The Journal of Neuroscience 15 1 Pt 1 274 83 doi 10 1523 JNEUROSCI 15 01 00274 1995 PMC 6578292 PMID 7823133 Joutel A Bousser MG Biousse V Labauge P Chabriat H Nibbio A et al September 1993 A gene for familial hemiplegic migraine maps to chromosome 19 Nature Genetics 5 1 40 5 doi 10 1038 ng0993 40 PMID 8220421 S2CID 6493091 Margolis RL Breschel TS Li SH Kidwai AS Antonarakis SE McInnis MG Ross CA July 1995 Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain Somatic Cell and Molecular Genetics 21 4 279 84 doi 10 1007 BF02255782 PMID 8525433 S2CID 22174220 Rettig J Sheng ZH Kim DK Hodson CD Snutch TP Catterall WA July 1996 Isoform specific interaction of the alpha1A subunits of brain Ca2 channels with the presynaptic proteins syntaxin and SNAP 25 Proceedings of the National Academy of Sciences of the United States of America 93 14 7363 8 Bibcode 1996PNAS 93 7363R doi 10 1073 pnas 93 14 7363 PMC 38990 PMID 8692999 Diriong S Lory P Williams ME Ellis SB Harpold MM Taviaux S December 1995 Chromosomal localization of the human genes for alpha 1A alpha 1B and alpha 1E voltage dependent Ca2 channel subunits Genomics 30 3 605 9 doi 10 1006 geno 1995 1284 PMID 8825650 Ophoff RA Terwindt GM Vergouwe MN van Eijk R Oefner PJ Hoffman SM et al November 1996 Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca2 channel gene CACNL1A4 Cell 87 3 543 52 doi 10 1016 S0092 8674 00 81373 2 hdl 1765 57576 PMID 8898206 S2CID 16840573 Zhuchenko O Bailey J Bonnen P Ashizawa T Stockton DW Amos C et al January 1997 Autosomal dominant cerebellar ataxia SCA6 associated with small polyglutamine expansions in the alpha 1A voltage dependent calcium channel Nature Genetics 15 1 62 9 doi 10 1038 ng0197 62 PMID 8988170 S2CID 9116828 De Waard M Liu H Walker D Scott VE Gurnett CA Campbell KP January 1997 Direct binding of G protein betagamma complex to voltage dependent calcium channels Nature 385 6615 446 50 Bibcode 1997Natur 385 446W doi 10 1038 385446a0 PMID 9009193 S2CID 4287544 Qin N Platano D Olcese R Stefani E Birnbaumer L August 1997 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 Proceedings of the National Academy of Sciences of the United States of America 94 16 8866 71 doi 10 1073 pnas 94 16 8866 PMC 23172 PMID 9238069 Riess O Schols L Bottger H Nolte D Vieira Saecker AM Schimming C et al August 1997 SCA6 is caused by moderate CAG expansion in the alpha1A voltage dependent calcium channel gene Human Molecular Genetics 6 8 1289 93 doi 10 1093 hmg 6 8 1289 PMID 9259275 Jodice C Mantuano E Veneziano L Trettel F Sabbadini G Calandriello L et al October 1997 Episodic ataxia type 2 EA2 and spinocerebellar ataxia type 6 SCA6 due to CAG repeat expansion in the CACNA1A gene on chromosome 19p Human Molecular Genetics 6 11 1973 8 doi 10 1093 hmg 6 11 1973 hdl 2108 35797 PMID 9302278 Charvin N L eveque C Walker D Berton F Raymond C Kataoka M et al August 1997 Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P Q type calcium channel The EMBO Journal 16 15 4591 6 doi 10 1093 emboj 16 15 4591 PMC 1170085 PMID 9303303 Ishikawa K Tanaka H Saito M Ohkoshi N Fujita T Yoshizawa K et al August 1997 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 American Journal of Human Genetics 61 2 336 46 doi 10 1086 514867 PMC 1715894 PMID 9311738 Walker D Bichet D Campbell KP De Waard M January 1998 A beta 4 isoform specific interaction site in the carboxyl terminal region of the voltage dependent Ca2 channel alpha 1A subunit The Journal of Biological Chemistry 273 4 2361 7 doi 10 1074 jbc 273 4 2361 PMID 9442082 Yue Q Jen JC Thwe MM Nelson SF Baloh RW May 1998 De novo mutation in CACNA1A caused acetazolamide responsive episodic ataxia American Journal of Medical Genetics 77 4 298 301 doi 10 1002 SICI 1096 8628 19980526 77 4 lt 298 AID AJMG9 gt 3 0 CO 2 J PMID 9600739 Hans M Urrutia A Deal C Brust PF Stauderman K Ellis SB et al March 1999 Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A containing high voltage activated calcium channels Biophysical Journal 76 3 1384 400 Bibcode 1999BpJ 76 1384H doi 10 1016 S0006 3495 99 77300 5 PMC 1300117 PMID 10049321 Walker D Bichet D Geib S Mori E Cornet V Snutch TP et al April 1999 A new beta subtype specific interaction in alpha1A subunit controls P Q type Ca2 channel activation The Journal of Biological Chemistry 274 18 12383 90 doi 10 1074 jbc 274 18 12383 PMID 10212211 Nikonishyna Yuliia V et al 2022 Novel CACNA1A Variant p Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia Movement Disorders 37 2 Movement disorders official journal of the Movement Disorder Society 401 404 doi 10 1002 mds 28835 PMID 34647648 S2CID 238859984 Further reading editJen JC May 2015 1993 Familial Hemiplegic Migraine In Pagon RA Bird TD Dolan CR et al eds GeneReviews Seattle WA University of Washington Seattle PMID 20301295 NBK1388 Spacey Sian December 2011 Episodic Ataxia Type 2 RETIRED CHAPTER FOR HISTORICAL REFERENCE ONLY Episodic Ataxia Type 2 University of Washington Seattle PMID 20301674 NBK1501 In GeneReviews Gomez Christopher M July 2013 Spinocerebellar Ataxia Type 6 University of Washington Seattle PMID 20301319 NBK1140 In GeneReviews CACNA1A protein human at the U S National Library of Medicine Medical Subject Headings MeSH Retrieved from https en wikipedia org w index php title Cav2 1 amp oldid 1199846089, wikipedia, wiki, book, books, library,
