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Aliases for CACNA1C Gene

Aliases for CACNA1C Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 C 2 3
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit 2 3 5
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle 3 4
  • CACNL1A1 3 4
  • CCHL1A1 3 4
  • CACH2 3 4
  • CACN2 3 4
  • Voltage-Gated L-Type Calcium Channel Cav1.2 Alpha 1 Subunit, Splice Variant 10* 3
  • Calcium Channel, Cardic Dihydropyridine-Sensitive, Alpha-1 Subunit 3
  • Voltage-Dependent L-Type Ca2+ Channel Alpha 1 Subunit 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.2 4
  • DHPR, Alpha-1 Subunit 3
  • CaV1.2 3
  • LQT8 3
  • TS 3

External Ids for CACNA1C Gene

Previous HGNC Symbols for CACNA1C Gene

  • CCHL1A1
  • CACNL1A1

Previous GeneCards Identifiers for CACNA1C Gene

  • GC12P002096
  • GC12P002032

Summaries for CACNA1C Gene

Entrez Gene Summary for CACNA1C Gene

  • This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

GeneCards Summary for CACNA1C Gene

CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C) is a Protein Coding gene. Diseases associated with CACNA1C include timothy syndrome and brugada syndrome 3. Among its related pathways are Metabolism and Circadian entrainment. GO annotations related to this gene include enzyme binding and ion channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot for CACNA1C Gene

  • 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-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.

Tocris Summary for CACNA1C Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1C Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1C Gene

Genomics for CACNA1C Gene

Regulatory Elements for CACNA1C Gene

Genomic Location for CACNA1C Gene

Chromosome:
12
Start:
1,970,786 bp from pter
End:
2,697,950 bp from pter
Size:
727,165 bases
Orientation:
Plus strand

Genomic View for CACNA1C Gene

Genes around CACNA1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1C Gene

Proteins for CACNA1C Gene

  • Protein details for CACNA1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13936-CAC1C_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1C
    Protein Accession:
    Q13936
    Secondary Accessions:
    • B2RUT3
    • E9PDJ0
    • Q13917
    • Q13918
    • Q13919
    • Q13920
    • Q13921
    • Q13922
    • Q13923
    • Q13924
    • Q13925
    • Q13926
    • Q13927
    • Q13928
    • Q13929
    • Q13930
    • Q13932
    • Q13933
    • Q14743
    • Q14744
    • Q15877
    • Q4VMI7
    • Q4VMI8
    • Q4VMI9
    • Q6PKM7
    • Q8N6C0
    • Q99025
    • Q99241
    • Q99875

    Protein attributes for CACNA1C Gene

    Size:
    2221 amino acids
    Molecular mass:
    248977 Da
    Quaternary structure:
    • 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. Interacts with CACNA2D4. Interacts (via the N-terminus and the C-terminal C and IQ motifs) with CABP1. The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium-dependent manner (By similarity). Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity).
    SequenceCaution:
    • Sequence=AAA02500.2; Type=Frameshift; Positions=1844; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CACNA1C Gene

neXtProt entry for CACNA1C Gene

Proteomics data for CACNA1C Gene at MOPED

Post-translational modifications for CACNA1C Gene

  • Phosphorylation by PKA activates the channel.
  • Glycosylation at Asn 153, Asn 328, Asn 1436, and Asn 1487
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1C Gene

Domains & Families for CACNA1C Gene

Gene Families for CACNA1C Gene

Graphical View of Domain Structure for InterPro Entry

Q13936

UniProtKB/Swiss-Prot:

CAC1C_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily.
genes like me logo Genes that share domains with CACNA1C: view

Function for CACNA1C Gene

Molecular function for CACNA1C Gene

GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1C subunit,dihydropyridine (DHP) sensitive,cardiac ,brain,isoform 1
UniProtKB/Swiss-Prot 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-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.

Gene Ontology (GO) - Molecular Function for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential IMP 26253506
genes like me logo Genes that share ontologies with CACNA1C: view
genes like me logo Genes that share phenotypes with CACNA1C: view

Human Phenotype Ontology for CACNA1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1C Gene

MGI Knock Outs for CACNA1C:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1C Gene

Localization for CACNA1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1C Gene

Membrane; Multi-pass membrane protein. Cell membrane. Note=The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1C Gene COMPARTMENTS Subcellular localization image for CACNA1C gene
Compartment Confidence
cytosol 5
plasma membrane 5
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CACNA1C: view

Pathways & Interactions for CACNA1C Gene

genes like me logo Genes that share pathways with CACNA1C: view

SIGNOR curated interactions for CACNA1C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002520 immune system development IMP 15454078
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport IEA --
GO:0007411 axon guidance TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNA1C: view

Drugs & Compounds for CACNA1C Gene

(58) Drugs for CACNA1C Gene - From: IUPHAR, DGIdb, DrugBank, HMDB, PharmGKB, ApexBio, Novoseek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nisoldipine Approved Pharma Gating inhibitor, blocker, Target, inhibitor 5
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 117
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22
Nifedipine Approved Pharma Antagonist, Gating inhibitor, blocker, Target, inhibitor 106
Amlodipine Approved Pharma blocker, Target, inhibitor Calcium channel blocker 449

(6) Additional Compounds for CACNA1C Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
(S)-(-)-Bay K 8644
98625-26-4
Flunarizine dihydrochloride
30484-77-6
FPL 64176
120934-96-5
genes like me logo Genes that share compounds with CACNA1C: view

Transcripts for CACNA1C Gene

Unigene Clusters for CACNA1C Gene

Calcium channel, voltage-dependent, L type, alpha 1C subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1C Gene

No ASD Table

Relevant External Links for CACNA1C Gene

GeneLoc Exon Structure for
CACNA1C
ECgene alternative splicing isoforms for
CACNA1C

Expression for CACNA1C Gene

mRNA expression in normal human tissues for CACNA1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1C Gene

This gene is overexpressed in Colon - Sigmoid (x5.3) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for CACNA1C Gene

This gene is overexpressed in Heart (30.6), Frontal cortex (30.0), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1C Gene



SOURCE GeneReport for Unigene cluster for CACNA1C Gene Hs.118262

mRNA Expression by UniProt/SwissProt for CACNA1C Gene

Q13936-CAC1C_HUMAN
Tissue specificity: Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle.
genes like me logo Genes that share expression patterns with CACNA1C: view

Protein tissue co-expression partners for CACNA1C Gene

Primer Products

In Situ Assay Products

Orthologs for CACNA1C Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1C 35
  • 99.53 (n)
  • 99.61 (a)
CACNA1C 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1C 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1C 36
  • 96 (a)
OneToOne
CACNA1C 35
  • 91.69 (n)
  • 95.95 (a)
mouse
(Mus musculus)
Mammalia Cacna1c 36
  • 91 (a)
OneToOne
Cacna1c 16
Cacna1c 35
  • 89.61 (n)
  • 95.1 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA1C 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1C 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1c 35
  • 89.59 (n)
  • 95 (a)
chicken
(Gallus gallus)
Aves CACNA1C 35
  • 83.66 (n)
  • 91.77 (a)
CACNA1C 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1C 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1c 35
  • 78.44 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1c 36
  • 79 (a)
OneToOne
cacna1c 35
  • 74.03 (n)
  • 80.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-19 37
  • 65 (a)
nca-1 37
  • 26 (a)
unc-2 37
  • 45 (a)
Species with no ortholog for CACNA1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1C Gene

ENSEMBL:
Gene Tree for CACNA1C (if available)
TreeFam:
Gene Tree for CACNA1C (if available)

Paralogs for CACNA1C Gene

Paralogs for CACNA1C Gene

genes like me logo Genes that share paralogs with CACNA1C: view

Variants for CACNA1C Gene

Sequence variations from dbSNP and Humsavar for CACNA1C Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_001495 -
VAR_001496 -
VAR_026741 Timothy syndrome (TS)
VAR_026742 Timothy syndrome (TS)
VAR_044039 Brugada syndrome 3 (BRGDA3)

Structural Variations from Database of Genomic Variants (DGV) for CACNA1C Gene

Variant ID Type Subtype PubMed ID
nsv898598 CNV Gain 21882294
nsv521838 CNV Gain 19592680
dgv1342n71 CNV Gain 21882294
nsv826182 CNV Gain 20364138
nsv826183 CNV Gain 20364138
esv23290 CNV Loss 19812545
nsv826184 CNV Gain 20364138
nsv826185 CNV Gain 20364138
nsv898603 CNV Loss 21882294
esv998408 CNV Deletion 20482838
esv27797 CNV Loss 19812545
esv1439292 CNV Deletion 17803354
esv1009527 CNV Deletion 20482838
nsv53850 CNV Loss 16902084
esv1150716 CNV Deletion 17803354
esv1158447 CNV Insertion 17803354
esv2745406 CNV Deletion 23290073
dgv25n6 CNV Loss 16902084
esv2745407 CNV Deletion 23290073
dgv176n27 CNV Loss 19166990
nsv521953 CNV Loss 19592680
nsv516496 CNV Loss 19592680
dgv1343n71 CNV Loss 21882294
nsv8889 CNV Gain+Loss 18304495
dgv258n67 CNV Loss 20364138
nsv821362 CNV Deletion 20802225
nsv508663 CNV Loss 20534489
esv2658961 CNV Deletion 23128226
nsv819825 CNV Gain 19587683
dgv259n67 CNV Loss 20364138
esv29907 CNV Gain 19812545
nsv818879 CNV Loss 17921354
dgv177n27 CNV Loss 19166990
esv2422127 CNV Deletion 20811451
nsv468973 CNV Loss 19166990
nsv442629 CNV CNV 18776908
nsv514658 CNV Loss 21397061
nsv438187 CNV Loss 16468122
esv2745409 CNV Deletion 23290073
nsv513346 CNV Insertion 21212237
esv2665790 CNV Deletion 23128226
nsv575 CNV Insertion 18451855
nsv509449 CNV Insertion 20534489
nsv76 CNV Insertion 15895083
esv1000811 CNV Insertion 20482838
nsv53170 CNV Insertion 16902084
esv1308691 CNV Insertion 17803354
esv2670400 CNV Deletion 23128226
esv2476778 CNV Insertion 19546169
esv1572229 CNV Insertion 17803354
nsv524111 CNV Loss 19592680
nsv832307 CNV Gain 17160897
esv2676258 CNV Deletion 23128226
esv2745410 CNV Deletion 23290073
nsv507627 CNV Insertion 20534489
esv24119 CNV Loss 19812545
esv2745411 CNV Deletion 23290073
esv2674294 CNV Deletion 23128226
nsv898606 CNV Gain 21882294
esv2660122 CNV Deletion 23128226
nsv526182 CNV Gain 19592680
nsv509450 CNV Insertion 20534489
esv8409 CNV Gain 19470904
esv2745412 CNV Deletion 23290073
nsv52683 CNV Insertion 16902084
nsv576 CNV Insertion 18451855
esv1578304 CNV Deletion 17803354
esv2745413 CNV Deletion 23290073
esv21449 CNV Loss 19812545
esv2745414 CNV Deletion 23290073
esv2745415 CNV Deletion 23290073
esv2485224 CNV Insertion 19546169
nsv578 CNV Insertion 18451855
nsv832308 CNV Loss 17160897
nsv53150 CNV Insertion 16902084
dgv1344n71 CNV Gain 21882294
esv2745416 CNV Deletion 23290073
esv9177 CNV Loss 19470904
nsv898609 CNV Gain 21882294
esv2666981 CNV Deletion 23128226

Variation tolerance for CACNA1C Gene

Residual Variation Intolerance Score: 3.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1C Gene

HapMap Linkage Disequilibrium report
CACNA1C
Human Gene Mutation Database (HGMD)
CACNA1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1C Gene

Disorders for CACNA1C Gene

MalaCards: The human disease database

(25) MalaCards diseases for CACNA1C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
timothy syndrome
  • long qt syndrome with syndactyly
brugada syndrome 3
  • brgda3
brugada syndrome
  • sudden unexpected nocturnal death syndrome
familial long qt syndrome
  • congenital long qt syndrome
congenital heart block
  • heart block congenital
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1C_HUMAN
  • Timothy syndrome (TS) [MIM:601005]: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. {ECO:0000269 PubMed:15454078, ECO:0000269 PubMed:15863612, ECO:0000269 PubMed:24728418, ECO:0000269 PubMed:25260352, ECO:0000269 PubMed:25633834, ECO:0000269 PubMed:26253506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 3 (BRGDA3) [MIM:611875]: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNA1C

Genetic Association Database (GAD)
CACNA1C
Human Genome Epidemiology (HuGE) Navigator
CACNA1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1C
genes like me logo Genes that share disorders with CACNA1C: view

No data available for Genatlas for CACNA1C Gene

Publications for CACNA1C Gene

  1. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. (PMID: 15863612) Splawski I. … Keating M.T. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23 67
  2. Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene. (PMID: 9607315) Zuehlke R.D. … Reuter H. (FEBS Lett. 1998) 3 25 26
  3. Analyzing the components of the free-energy landscape in a calcium selective ion channel by Widom's particle insertion method. (PMID: 21303162) Boda D. … Gillespie D. (J Chem Phys 2011) 25 26
  4. BIN1 localizes the L-type calcium channel to cardiac T-tubules. (PMID: 20169111) Hong T.T. … Shaw R.M. (PLoS Biol. 2010) 3 23
  5. Role of intraarterial therapy for cerebral vasospasm secondary to aneurysmal subarachnoid hemorrhage. (PMID: 20334460) Weant K.A. … Cook A.M. (Pharmacotherapy 2010) 25 26

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