CACNA1C : calcium voltage-gated channel subunit alpha1 C
Description
The CACNA1C (calcium voltage-gated channel subunit alpha1 C) is a protein-coding gene located on chromosome 12.
The CACNA1C gene provides instructions for making the CaV1.2 calcium channel, which plays a vital role in cell signaling by transporting calcium ions into cells. This channel is crucial for heart function, controlling calcium flow in cardiomyocytes during each heartbeat, and is involved in brain functions like memory, fear response, and nerve signal transmission. The gene produces various isoforms of the CaV1.2 channel through alternative splicing, creating different versions with varying distribution in the body. For example, in the heart and brain, two main isoforms exist: one with exon 8 and another with exon 8A, which has implications for studying CACNA1C mutations.
The CACNA1C gene encodes a pore-forming subunit of the voltage-gated calcium channel, known as the alpha-1C subunit or CaV1.2. This subunit is responsible for generating L-type calcium currents, which are essential for various cellular processes, including muscle contraction, neurotransmitter release, and gene regulation. It plays a crucial role in excitation-contraction coupling in the heart, regulating the flow of calcium ions into cardiomyocytes during each heartbeat. Its function is vital for normal heart development and the regulation of heart rhythm. Additionally, it contributes to the contraction of smooth muscle cells in blood vessels and the intestines, playing a significant role in blood pressure regulation. The CACNA1C gene product belongs to the 'high-voltage activated' (HVA) group of calcium channels.
CACNA1C is also known as CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8.
Associated Diseases
- Romano-Ward syndrome
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- Brugada syndrome
- Timothy syndrome
- Brugada syndrome 3
- Long QT syndrome 8
- Short QT syndrome
