CACNA1C

calcium voltage-gated channel subunit alpha1 C

12p13.33DigenicAutosomal DominantAutosomal RecessiveDe NovoOMIM 192500

Also known as: CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8

Gene Summary

RefSeq / NCBI

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]

Associated Conditions

Long QT Syndromes

DigenicAutosomal DominantAutosomal RecessiveIon Channels / Membrane

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

ClinGen

Clinical Genome Resource

G2P

Gene-to-Phenotype (EBI)

GeneReviews

NCBI Expert-Authored Reviews

NCBI Gene

National Center for Biotechnology Information

PubMed

Biomedical Literature

UniProt

Universal Protein Resource

DECIPHER

DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.