Gene name:
CACNA1A (CACH4;CACN3;CACNL1A4) ;
Protein name:
Voltage-dependent P/Q-type calcium channel subunit alpha-1A ;
Alternative:
Calcium channel, L type, alpha-1 polypeptide isoform 4 ;Brain calcium channel I (BI) ;Voltage-gated calcium channel subunit alpha Cav2.1 ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes.
Function:
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).
Subcellular Location:
Membrane
Multi-pass membrane protein
Protein Attributes:
50:
MARFGDEMPA | RYGGGGSGAA | AGVVVGSGGG | RGAGGSRQGG | QPGAQRMYKQ |
100:
SMAQRARTMA | LYNPIPVRQN | CLTVNRSLFL | FSEDNVVRKY | AKKITEWPPF |
150:
EYMILATIIA | NCIVLALEQH | LPDDDKTPMS | ERLDDTEPYF | IGIFCFEAGI |
200:
KIIALGFAFH | KGSYLRNGWN | VMDFVVVLTG | ILATVGTEFD | LRTLRAVRVL |
250:
RPLKLVSGIP | SLQVVLKSIM | KAMIPLLQIG | LLLFFAILIF | AIIGLEFYMG |
300:
KFHTTCFEEG | TDDIQGESPA | PCGTEEPART | CPNGTKCQPY | WEGPNNGITQ |
350:
FDNILFAVLT | VFQCITMEGW | TDLLYNSNDA | SGNTWNWLYF | IPLIIIGSFF |
400:
MLNLVLGVLS | GEFAKERERV | ENRRAFLKLR | RQQQIERELN | GYMEWISKAE |
450:
EVILAEDETD | GEQRHPFDGA | LRRTTIKKSK | TDLLNPEEAE | DQLADIASVG |
500:
SPFARASIKS | AKLENSTFFH | KKERRMRFYI | RRMVKTQAFY | WTVLSLVALN |
550:
TLCVAIVHYN | QPEWLSDFLY | YAEFIFLGLF | MSEMFIKMYG | LGTRPYFHSS |
600:
FNCFDCGVII | GSIFEVIWAV | IKPGTSFGIS | VLRALRLLRI | FKVTKYWASL |
650:
RNLVVSLLNS | MKSIISLLFL | LFLFIVVFAL | LGMQLFGGQF | NFDEGTPPTN |
700:
FDTFPAAIMT | VFQILTGEDW | NEVMYDGIKS | QGGVQGGMVF | SIYFIVLTLF |
750:
GNYTLLNVFL | AIAVDNLANA | QELTKDEQEE | EEAANQKLAL | QKAKEVAEVS |
800:
PLSAANMSIA | VKEQQKNQKP | AKSVWEQRTS | EMRKQNLLAS | REALYNEMDP |
850:
DERWKAAYTR | HLRPDMKTHL | DRPLVVDPQE | NRNNNTNKSR | AAEPTVDQRL |
900:
GQQRAEDFLR | KQARYHDRAR | DPSGSAGLDA | RRPWAGSQEA | ELSREGPYGR |
950:
ESDHHAREGS | LEQPGFWEGE | AERGKAGDPH | RRHVHRQGGS | RESRSGSPRT |
1000:
GADGEHRRHR | AHRRPGEEGP | EDKAERRARH | REGSRPARGG | EGEGEGPDGG |
1050:
ERRRRHRHGA | PATYEGDARR | EDKERRHRRR | KENQGSGVPV | SGPNLSTTRP |
1100:
IQQDLGRQDP | PLAEDIDNMK | NNKLATAESA | APHGSLGHAG | LPQSPAKMGN |
1150:
STDPGPMLAI | PAMATNPQNA | ASRRTPNNPG | NPSNPGPPKT | PENSLIVTNP |
1200:
SGTQTNSAKT | ARKPDHTTVD | IPPACPPPLN | HTVVQVNKNA | NPDPLPKKEE |
1250:
EKKEEEEDDR | GEDGPKPMPP | YSSMFILSTT | NPLRRLCHYI | LNLRYFEMCI |
1300:
LMVIAMSSIA | LAAEDPVQPN | APRNNVLRYF | DYVFTGVFTF | EMVIKMIDLG |
1350:
LVLHQGAYFR | DLWNILDFIV | VSGALVAFAF | TGNSKGKDIN | TIKSLRVLRV |
1400:
LRPLKTIKRL | PKLKAVFDCV | VNSLKNVFNI | LIVYMLFMFI | FAVVAVQLFK |
1450:
GKFFHCTDES | KEFEKDCRGK | YLLYEKNEVK | ARDREWKKYE | FHYDNVLWAL |
1500:
LTLFTVSTGE | GWPQVLKHSV | DATFENQGPS | PGYRMEMSIF | YVVYFVVFPF |
1550:
FFVNIFVALI | IITFQEQGDK | MMEEYSLEKN | ERACIDFAIS | AKPLTRHMPQ |
1600:
NKQSFQYRMW | QFVVSPPFEY | TIMAMIALNT | IVLMMKFYGA | SVAYENALRV |
1650:
FNIVFTSLFS | LECVLKVMAF | GILNYFRDAW | NIFDFVTVLG | SITDILVTEF |
1700:
GNNFINLSFL | RLFRAARLIK | LLRQGYTIRI | LLWTFVQSFK | ALPYVCLLIA |
1750:
MLFFIYAIIG | MQVFGNIGID | VEDEDSDEDE | FQITEHNNFR | TFFQALMLLF |
1800:
RSATGEAWHN | IMLSCLSGKP | CDKNSGILTR | ECGNEFAYFY | FVSFIFLCSF |
1850:
LMLNLFVAVI | MDNFEYLTRD | SSILGPHHLD | EYVRVWAEYD | PAAWGRMPYL |
1900:
DMYQMLRHMS | PPLGLGKKCP | ARVAYKRLLR | MDLPVADDNT | VHFNSTLMAL |
1950:
IRTALDIKIA | KGGADKQQMD | AELRKEMMAI | WPNLSQKTLD | LLVTPHKSTD |
2000:
LTVGKIYAAM | MIMEYYRQSK | AKKLQAMREE | QDRTPLMFQR | MEPPSPTQEG |
2050:
GPGQNALPST | QLDPGGALMA | HESGLKESPS | WVTQRAQEMF | QKTGTWSPEQ |
2100:
GPPTDMPNSQ | PNSQSVEMRE | MGRDGYSDSE | HYLPMEGQGR | AASMPRLPAE |
2150:
NQRRRGRPRG | NNLSTISDTS | PMKRSASVLG | PKARRLDDYS | LERVPPEENQ |
2200:
RHHQRRRDRS | HRASERSLGR | YTDVDTGLGT | DLSMTTQSGD | LPSKERDQER |
2250:
GRPKDRKHRQ | HHHHHHHHHH | PPPPDKDRYA | QERPDHGRAR | ARDQRWSRSP |
2300:
SEGREHMAHR | QGSSSVSGSP | APSTSGTSTP | RRGRRQLPQT | PSTPRPHVSY |
2350:
SPVIRKAGGS | GPPQQQQQQQ | QQQQAVARPG | RAATSGPRRY | PGPTAEPLAG |
2400:
DRPPTGGHSS | GRSPRMERRV | PGPARSESPR | ACRHGGARWP | ASGPHVSEGP |
2450:
PGPRHHGYYR | GSDYDEADGP | GSGGGEEAMA | GAYDAPPPVR | HASSGATGRS |
2500:
PRTPRASGPA | CASPSRHGRR | LPNGYYPAHG | LARPRGPGSR | KGLHEPYSES |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Rat
Chicken
Human
Rabbit
Mouse
ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
ELISA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
CLIA Kit for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Polyclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Monoclonal Antibody for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Protein for Human Voltage-dependent P/Q-type calcium channel subunit alpha-1A
R&D Technical Data
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2)
tissue :
Neuron .
2.
"Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4."
Ophoff R.A.
,
Terwindt G.M.
,
Vergouwe M.N.
,
van Eijk R.
,
Oefner P.J.
,
Hoffman S.M.G.
,
Lamerdin J.E.
,
Mohrenweiser H.W.
,
Bulman D.E.
,
Ferrari M.
,
Haan J.
,
Lindhout D.
,
van Ommen G.-J.B.
,
Hofker M.H.
,
Ferrari M.D.
,
Frants R.R.
Cell87:543-552(1996)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3);VARIANTS FHM1 GLN-192; MET-666; ALA-714 AND LEU-1810;VARIANT THR-454;INVOLVEMENT IN EA2
tissue :
Cerebellum .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);NUCLEOTIDE SEQUENCE [MRNA] OF 1313-2505 (ISOFORMS 1; 2; 3; 6 AND 7);ALTERNATIVE SPLICING;INVOLVEMENT IN SCA6
tissue :
Brain .
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8);VARIANT SER-1105
tissue :
Cerebellum .
5.
"The DNA sequence and biology of human chromosome 19."
Grimwood J.
,
Gordon L.A.
,
Olsen A.S.
,
Terry A.
,
Schmutz J.
,
Lamerdin J.E.
,
Hellsten U.
,
Goodstein D.
,
Couronne O.
,
Tran-Gyamfi M.
,
Aerts A.
,
Altherr M.
,
Ashworth L.
,
Bajorek E.
,
Black S.
,
Branscomb E.
,
Caenepeel S.
,
Carrano A.V.
,
Caoile C.
,
Chan Y.M.
,
Christensen M.
,
Cleland C.A.
,
Copeland A.
,
Dalin E.
,
Dehal P.
,
Denys M.
,
Detter J.C.
,
Escobar J.
,
Flowers D.
,
Fotopulos D.
,
Garcia C.
,
Georgescu A.M.
,
Glavina T.
,
Gomez M.
,
Gonzales E.
,
Groza M.
,
Hammon N.
,
Hawkins T.
,
Haydu L.
,
Ho I.
,
Huang W.
,
Israni S.
,
Jett J.
,
Kadner K.
,
Kimball H.
,
Kobayashi A.
,
Larionov V.
,
Leem S.-H.
,
Lopez F.
,
Lou Y.
,
Lowry S.
,
Malfatti S.
,
Martinez D.
,
McCready P.M.
,
Medina C.
,
Morgan J.
,
Nelson K.
,
Nolan M.
,
Ovcharenko I.
,
Pitluck S.
,
Pollard M.
,
Popkie A.P.
,
Predki P.
,
Quan G.
,
Ramirez L.
,
Rash S.
,
Retterer J.
,
Rodriguez A.
,
Rogers S.
,
Salamov A.
,
Salazar A.
,
She X.
,
Smith D.
,
Slezak T.
,
Solovyev V.
,
Thayer N.
,
Tice H.
,
Tsai M.
,
Ustaszewska A.
,
Vo N.
,
Wagner M.
,
Wheeler J.
,
Wu K.
,
Xie G.
,
Yang J.
,
Dubchak I.
,
Furey T.S.
,
DeJong P.
,
Dickson M.
,
Gordon D.
,
Eichler E.E.
,
Pennacchio L.A.
,
Richardson P.
,
Stubbs L.
,
Rokhsar D.S.
,
Myers R.M.
,
Rubin E.M.
,
Lucas S.M.
more...
Nature428:529-535(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 1693-1807
tissue :
Lung carcinoma .
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 1702-1822;TISSUE SPECIFICITY
tissue :
Lung carcinoma .
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 2038-2258 (ISOFORMS 1/2/3/4)
tissue :
Frontal cortex .
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH CABP1
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 1955-1975
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT SCA6 ARG-293
12.
"Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p."
Jodice C.
,
Mantuano E.
,
Veneziano L.
,
Trettel F.
,
Sabbadini G.
,
Calandriello L.
,
Francia A.
,
Spadaro M.
,
Pierelli F.
,
Salvi F.
,
Ophoff R.A.
,
Frants R.R.
,
Frontali M.
Hum. Mol. Genet.6:1973-1978(1997)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : POLYMORPHISM;INVOLVEMENT IN SCA6 AND EA2
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 HIS-1661
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT VAL-993;VARIANT FHM1 LEU-1456
15.
"Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine."
Kors E.E.
,
Terwindt G.M.
,
Vermeulen F.L.
,
Fitzsimons R.B.
,
Jardine P.E.
,
Heywood P.
,
Love S.
,
van den Maagdenberg A.M.
,
Haan J.
,
Frants R.R.
,
Ferrari M.D.
Ann. Neurol.49:753-760(2001)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FHM1 LEU-218
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 LYS-1756
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FHM1 LYS-195; GLN-583; MET-666; GLU-715; GLU-1335; CYS-1384; TRP-1667; ARG-1683 AND ILE-1695
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 CYS-1403;CHARACTERIZATION OF VARIANT EA2 CYS-1403
19.
"Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene."
van den Maagdenberg A.M.
,
Kors E.E.
,
Brunt E.R.
,
van Paesschen W.
,
Pascual J.
,
Ravine D.
,
Keeling S.
,
Vanmolkot K.R.
,
Vermeulen F.L.
,
Terwindt G.M.
,
Haan J.
,
Frants R.R.
,
Ferrari M.D.
J. Neurol.249:1515-1519(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 TYR-253
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 LEU-1736
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FHM1 GLN-1346
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS EA2 ARG-256; ARG-1482; SER-1490; ILE-1493 AND CYS-2135
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS EA2 TYR-287; ARG-293 AND MET-666
24.
"Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4."
von Brevern M.
,
Ta N.
,
Shankar A.
,
Wiste A.
,
Siegel A.
,
Radtke A.
,
Sander T.
,
Escayg A.
Headache46:1136-1141(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS ASP-918; VAL-993 AND SER-1105
25.
"Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene."
Tonelli A.
,
D'Angelo M.G.
,
Salati R.
,
Villa L.
,
Germinasi C.
,
Frattini T.
,
Meola G.
,
Turconi A.C.
,
Bresolin N.
,
Bassi M.T.
J. Neurol. Sci.241:13-17(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT SCA6 GLN-1664
26.
"CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine."
Stam A.H.
,
Vanmolkot K.R.
,
Kremer H.P.
,
Gartner J.
,
Brown J.
,
Leshinsky-Silver E.
,
Gilad R.
,
Kors E.E.
,
Frankhuizen W.S.
,
Ginjaar H.B.
,
Haan J.
,
Frants R.R.
,
Ferrari M.D.
,
van den Maagdenberg A.M.
,
Terwindt G.M.
Clin. Genet.74:481-485(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FHM1 GLN-1346
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 CYS-248
28.
"Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene."
Cuenca-Leon E.
,
Banchs I.
,
Serra S.A.
,
Latorre P.
,
Fernandez-Castillo N.
,
Corominas R.
,
Valverde M.A.
,
Volpini V.
,
Fernandez-Fernandez J.M.
,
Macaya A.
,
Cormand B.
J. Neurol. Sci.280:10-14(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 ASP-638;CHARACTERIZATION OF VARIANT EA2 ASP-638
29.
"The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility."
D'Onofrio M.
,
Ambrosini A.
,
Di Mambro A.
,
Arisi I.
,
Santorelli F.M.
,
Grieco G.S.
,
Nicoletti F.
,
Nappi G.
,
Pierelli F.
,
Schoenen J.
,
Buzzi M.G.
Neurosci. Lett.453:12-15(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS ASP-918 AND VAL-993
30.
"A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation."
Romaniello R.
,
Zucca C.
,
Tonelli A.
,
Bonato S.
,
Baschirotto C.
,
Zanotta N.
,
Epifanio R.
,
Righini A.
,
Bresolin N.
,
Bassi M.T.
,
Borgatti R.
J. Neurol. Neurosurg. Psych.81:840-843(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT SCA6 THR-405
31.
"Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2."
Mantuano E.
,
Romano S.
,
Veneziano L.
,
Gellera C.
,
Castellotti B.
,
Caimi S.
,
Testa D.
,
Estienne M.
,
Zorzi G.
,
Bugiani M.
,
Rajabally Y.A.
,
Barcina M.J.
,
Servidei S.
,
Panico A.
,
Frontali M.
,
Mariotti C.
J. Neurol. Sci.291:30-36(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS EA2 PHE-389; MET-501; THR-798; ARG-897; CYS-1679 AND ARG-1869
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT EA2 LYS-388