Catalog No.
YHA15401
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met249-Trp335
Predicted molecular weight
37.80 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O00555
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
CACNA1A, CACNL1A4, CACN3, Calcium channel, L type, alpha-1 polypeptide isoform 4, CACH4, Brain calcium channel I, Voltage-dependent P/Q-type calcium channel subunit alpha-1A, Voltage-gated calcium channel subunit alpha Cav2.1, BI
2-Hydroxy-4-n-octyloxybenzophenone induces developmental neurotoxicity and multiple sclerosis-like symptoms through cacna1a regulated Ca2 + inward flow and microglial activation., PMID:40188732
Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series., PMID:40149486
Phenotypic variability in cases with CACNA1A mutation., PMID:40111503
Expanding the Genetic and Clinical Spectrum of SCN1A-Related Hemiplegic Migraine: Analysis of Mutations in Japanese., PMID:40003892
Resilience to Endoplasmic Reticulum Stress Mitigates Calcium-Dependent Membrane Hyperexcitability Underlying Late Disease Onset in SCA6., PMID:39975408
Susceptibility to pseudoexfoliation linked to intronic variant rs4926246 in CACNA1A: Evidence from an Indian population study., PMID:39826673
Exploring the association between familial hemiplegic migraine genes (CACNA1A, ATP1A2 and SCN1A) with migraine and epilepsy: A UK Biobank exome-wide association study., PMID:39781574
N-Acetyl-leucine in progressive CACNA1A ataxia: A case series., PMID:39765122
Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder., PMID:39667411
A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating., PMID:39568055
Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies., PMID:39513870
Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene., PMID:39506885
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability., PMID:39460936
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series., PMID:39345003
CDHu40: a novel marker gene set of neuroendocrine prostate cancer., PMID:39318189
A Bruton tyrosine kinase inhibitor-resistance gene signature predicts prognosis and identifies TRIP13 as a potential therapeutic target in diffuse large B-cell lymphoma., PMID:39261532
Familial hemiplegic migraine., PMID:39174245
The episodic ataxias., PMID:39174244
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis., PMID:39152783
Natural history of non-polyglutamine CACNA1A disease in Austria., PMID:39110218
Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end products using correlated meta-analyses: The Long Life Family Study., PMID:38932496
Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene., PMID:38869769
CACNA1A variant associated with generalized dystonia., PMID:38743163
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals., PMID:38712155
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective., PMID:38681799
Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches., PMID:38674378
The Brain Gene Registry: a data snapshot., PMID:38632549
CDHu40: a novel marker gene set of neuroendocrine prostate cancer (NEPC)., PMID:38585861
Unraveling the significance of PPP1R1A gene in pancreatic β-cell function: A study in INS-1 cells and human pancreatic islets., PMID:38574885
Voltage-gated Calcium Channels as Potential Therapeutic Targets in Migraine., PMID:38522594
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights., PMID:38458754
A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle., PMID:38426585
Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6., PMID:38211534
Whole-exome sequencing of Nigerian benign prostatic hyperplasia reveals increased alterations in apoptotic pathways., PMID:38192023
Pearls & Oy-sters: CACNA1A-Related Paroxysmal Tonic Upgaze With Ataxia Responsive to Acetazolamide., PMID:38175838
Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene., PMID:38174495
A novel CACNA1A mutation in a neonate with severe encephalopathy at birth., PMID:38079102
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy., PMID:38003592
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy., PMID:37820178
Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology., PMID:37651830
BDNF and Cerebellar Ataxia., PMID:37609676
Investigating the Genetic Background of Spastic Syndrome in North American Holstein Cattle Based on Heritability, Genome-Wide Association, and Functional Genomic Analyses., PMID:37510383
Crossing the border between epileptic and vascular pathology: a report of CACNA1A-related treatment-resistant hemiplegic migraine., PMID:37466662
Migraine with prolonged aphasic aura associated with a CACNA1A mutation: A case report and narrative review., PMID:37366229
High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy., PMID:37342032
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study., PMID:37326332
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias., PMID:37301203