The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell’s ability to generate and transmit electrical signals. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes.
The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. This subunit forms the hole (pore) through which calcium ions can flow. CaV2.1 channels play an essential role in communication between nerve cells (neurons) in the brain. These channels are especially abundant in neurons called Purkinje cells and granule cells. These neurons are found in the part of the brain that coordinates movement (the cerebellum) .
CaV2.1 channels help control the release of neurotransmitters, which are chemicals that relay signals from one neuron to another. Researchers believe that CaV2.1 channels are also involved in the survival of neurons and the ability of these cells to change and adapt over time (plasticity).
The CACNA1A gene also provides instructions for making another protein called alpha1-ACT (α1ACT). This protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The α1ACT protein is important for the development of neurons, especially Purkinje cells.
Near the tail end of the CACNA1A gene, a segment of three DNA building blocks (nucleotides) is repeated multiple times. This sequence, which is written as CAG, is called a triplet or trinucleotide repeat. The number of CAG repeats in this gene typically ranges from 4 to 18.
Other Names
APCA; brain calcium channel 1; CAC1A_HUMAN; CACNL1A4; calcium channel, alpha 1A subunit; calcium channel, L type, alpha-1 polypeptide, isoform 4; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CAV2.1; HPCA; SCA6; Voltage-gated calcium channel subunit alpha Cav2.1
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Identifiers
- NCBI Gene: 773
- OMIM: 601011
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
