protein
Voltage-dependent L-type calcium channel subunit alpha-1C
Gene
CACNA1C
Organism
Homo sapiens(9606)
Length
2221 aa
Mass
248,977 Da
CACNA1C encodes the pore-forming alpha-1C subunit of voltage-gated L-type calcium channels, which mediate calcium influx into cells and are classified as high-voltage activated channels (UniProt: Q13936). The protein is essential for excitation-contraction coupling in cardiac muscle and regulates contraction of smooth muscle cells in blood vessels and intestine, thereby controlling heart rhythm and blood pressure (UniProt: Q13936).
CACNA1C is widely expressed and has roles in multiple organ systems. Disease associations include Timothy syndrome (TS), characterized by lethal arrhythmias, congenital heart disease, immune deficiency, cognitive abnormalities and autism; Long QT syndrome 8 (LQT8); Brugada syndrome 3 (BRGDA3); and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) (UniProt: Q13936).
CACNA1C is classified as a Syndromic (SFARI Cat S) autism-associated gene, reflecting its role in Timothy syndrome, where autism is a documented clinical feature alongside multiorgan cardiac and developmental dysfunction (SFARI Cat S).
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:29078335, PubMed:29742403, PubMed:30023270, PubMed:30172029, PubMed:34163037, PubMed:8099908). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable)
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents
(Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930)
Disease associations
Timothy syndromeTS
Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
Brugada syndrome 3BRGDA3
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.
Long QT syndrome 8LQT8
A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. LQT8 transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresNEDHLSS
An autosomal dominant disorder characterized by global developmental delay apparent from infancy, intellectual disability, poor or absent speech, behavioral abnormalities, and hypotonia with delayed walking or inability to walk. Additional features include epilepsy, mild skeletal defects, and non-specific dysmorphic features.
Sources
Last updated 5/6/2026, 5:25:00 AM