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Validated All-in-One™ qPCR Primer for CACNA1A(NM_000068.3) Search again
Product ID:
HQP018704
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Gene Description:
calcium voltage-gated channel subunit alpha1 A
Target Gene Accession:
NM_000068.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Gene References into function
- a pronounced loss of P/Q-type Ca(2+) channel function underlies the pathophysiology of EA-2 and PA. In contrast to other EA-2 mutations, AY1593/1594D and G293R form at least partially functional channels
- Did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.
- missense and mutations involved in episodic ataxia type 2
- first report confirming mutation in CACNA1A gene in familial hemiplegic migraine cases in Japan
- uncovered two functional effects common to all familial hemiplegic migraine mutations analyzed: increase of single-channel Ca(2+) influx and decrease of maximal Ca(V)2.1 current density in neurons
- novel SNPs within 25 kb of exon 8, defining the critical region of CACNA1A in predisposing to idiopathic generalized epilepsy
- R192Q mutation reduces G-protein inhibition of P/Q-type Ca(2+) channels, probably by altering mechanisms by which Gbetagamma subunit binding induces change in channel gating. May contribute to migraine attacks.
- Machado-Joseph disease and dentatorubral-pallidoluysian atrophy (DRPLA) mutations; SCA6 mutation was most frequently detected.
- Trinucleotide repeat expansions in this protein are not as common in spinocerebellar ataxia as in SSCA8.
- CACNA1A expressed in embryonic kidney 293T cells produces a 75 kDa C-terminal fragment in which resistance to proteolysis is rendered by an expanded polyglutamine tract, giving it a key role in the pathological mechanism of spinocerebellar ataxia type 6.
- A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
- The T666M mutation is the most frequent CACNA1A mutation in familial hemiplegic migraine
- novel CACNA1A mutation, IVS36-2A>G, at the 3' acceptor splice site of intron 36 was identified by sequencing.
- We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene.
- This study found that patients with congenital presynaptic failure of neuromuscle transmission and found sililarities with patients withEA-2 due to mutation in cacna1a.
- Early cerebellar dysfunction in episodic ataxia type 2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process.
- Functional analysis of a knockin mouse model of human R192Q pure FHM-1 mutation reveals a pure gain-of-function effect on Ca+ channel current, neurotransmission, and cortical spreading depression.
- Distribution of CACNA1A haplotypes predisposing to spinocerebellar ataxia type 6 contributes to the geographical differences in prevalence of SCA6 in western Japan.
- These results strongly suggest that ADCA families can be traced back to common ancestors in particular parts of the Netherlands.
- CACNA1A gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes.
- The molecular architecture of CAG repeats in mutant SCA6 transcripts was studied.
- This study identified a novel mutation of the CACNA1A gene, Ile1710thr, located in the domain IV-s5.
- Concerted splicing of the P/Q channel's main alpha1A subunit, at both an EF-hand-like domain and the channel C terminus, controls the form of Ca2+-dependent facilitation, an activity-dependent enhancement of channel opening triggered by calmodulin.
- This paper identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype. This mutation is localized near the pore-forming region of the P/Q-type Ca2+ channel.
- Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
- A heterozygous nt 5404 T>C substitution in exon 33 was associated with co-occurrence of familial hemiplegic migraine and childhood epilepsy.
- Impaired function of the mutant Ca2+ channels rendered them unable to prevent cell death.
- Here, we report the characterization of two modes of gating of human CaV2.1 channels, the slow mode and the fast mode.
- We show that the b gating mode produces reversible uncoupling of inactivation in human CaV2.1 channels.
- Leaner mice carry a homozygous, autosomal recessive mutation in the CACNA1A gene encoding the Alpha1A subunit of P/Q-type calcium channels. Leaner cerebellar granule cells die via an apoptotic process and the peak time of neuronal death is P20.
- This study have identified 2 novel truncating mutations of CACNA1A that are associated with interictal dystonia.
- The unique combination of a particularly slow inactivation of mutant S218L CaV2.1 channel during cortical spreading depression and a somewhat low threshold of channel activation might lead to delayed severe cerebral edema and coma after minor head trauma
- most prevalent mutation, a threonine to methionine substitution at position 666, affects both ionic current and gating current associated with channel activation
- presence of significant floccular atrophy compared with controls in both ataxin-2 and Ca(V)2.1 mutations
- Mutated in patients with episodic ataxia type 2, suggested involvement outside the cerebellum.
- In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the CACNA1A C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia.
- In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic CACNA1A mutations that predict aberrant splicing.
- The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function.
- Results indicate that for human P/Q-type Ca(2+) channels with the long-alpha(1A)-subunit isoform, both missense and nonsense episodic ataxia type 2 mutants indeed display prominent dominant-negative effects.
- a patient with early onset, non fluctuating spinocerebellar ataxia carries a novel de novo missense mutation in this gene, p.R1664Q.
- Ca2+-dependent inactivation of Ca(v)2.1 depends on a subplasmalemmal Ca2+ microdomain that is affected by the amplitude of the Ca2+ current and differentially modulated by distinct Ca2+ buffers
- Study shows that the CACNA1A gene is probably not involved in migraine with aura.
- The C-terminal fragment of CACNA1A bears a polyglutamine tract which, when expanded (Q33) as in spinocerebellar ataxia type 6 (SCA6), is toxic to cells.
- We found that SCA6 channels have decreased activity-dependent inactivation and a depolarizing shift (+6 mV) in steady-state inactivation properties consistent with a gain of function.
- study to identify whether CACNA1A and ATP1A2 are or not related to Brazilian familial hemiplegic migraine
- Functional studies of KLHL1 on P/Q-type current properties reveal a significant increase in mean current density in the presence of KLHL1.
- Direct sequencing of CACNA1A identified a heterozygous 1360G>A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 in two patients with hereditary ataxia.
- Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
- Ion channel gating is regulated by calcium and calmodulin binding.
- The alpha1A subunit, CACNA1A, is the specific pore-forming structure in P/Q-type voltage-dependent calcium channels found only in neurons. The role of these channels and CACNA1A mutations in neurological diseases is emphasized. Review.
- Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
- Dominant-negative effects of EA2 mutations involve disruption of membrane trafficking of human PQ-type Ca2+ channels.
- validated occurrence of unusual TG 3' splice sites in intron 9
- Sequence variants were identified in seven SHM patients: one CACNA1A mutation, five ATP1A2 mutations, and one SCN1A polymorphism. All six mutations caused functional changes in cellular assays.
- CaV2.1 channels are modulated by Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain
- T666M CACNA1A mutation in early onset familial hemiplegic migraine type 1 with cerebellar atrophy and mental retardation
- A core CACNA1A disease haplotype was found in affected individuals across the globe.
- This study present three siblings with the mutation(CACNA1A S218L) with the novel association of childhood seizures, and highlight the dynamic changes seen on electroencephalography during hemiplegic migraine attacks.
- This family was found to have a novel mutation at codon 1451 of the Ca2+ channel alpha 1A subunit. Excitability testing may prove a convenient screening test for patients with this suspected channelopathy.
- CACNA1A a frequent recurrent mutation in hemiplegic migraine.
- To identify early abnormalities of ocular motor function in individuals who have the spinocerebellar ataxia type 6 (SCA6) gene (CACNA1A) but no clinical symptoms.
- Report highlights profound phenotypic variability that can be associated with CACNA1A mutations associated with cerebellar ataxia.
- These results suggest that in some case of Guillain-Barre syndrome, particularly of acute motor axonal neuropathy patients with IgG anti-GM1 mAb, muscle weakness may be induced by dysfunction of Cav2.1 VDCC functioning at the motor nerve terminals.
- These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.
- 4 new variants were found in exons of the CACNA1A gene in sporadic hemiplegic migraine patients. It does not seem that CACNA1A is a major gene in SHM.
- Genotyping of CACNA1A shows nonmendelian inheritance of a CAG repeat located at the 3' end of the gene in a mother and daughter and suggests a deletion of several exons of CACNA1A, which is subsequently confirmed.
- The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
- Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with hemiplegic migraine, although they have not yet been proven to be pathogenic
- study reports a Japanese family with a T666M missense mutation in the protein encoded by CACNA1A; affected members demonstrated a broad clinical spectrum; despite the variability, all members exhibited marked downbeat positioning nystagmus
- proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca(v)2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons
- report of a two-generation family with several individuals affected, with benign paroxysmal tonic upgaze, benign paroxysmal torticollis or episodic ataxia; a heterozygous point mutation in exon 18 of CACNA1A (c.2206C>T)was identified
- CACNA1A gene revealed a de novo Ile712Val sequence variant in patient with seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy
- Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.