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Reviewed June 2012
What is the official name of the CACNB4 gene?
The official name of this gene is “calcium channel, voltage-dependent, beta 4 subunit.”
CACNB4 is the gene's official symbol. The CACNB4 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CACNB4 gene?
The CACNB4 gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) into cells, 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.
Calcium channels are each made up of a large alpha-1 (α1) subunit, which forms the hole (pore) through which calcium ions can flow. Each channel also includes several smaller subunits, which regulate the channel's activity and interact with various proteins inside and outside the cell. The CACNB4 gene provides instructions for making a regulatory subunit called beta-4 (β4). This subunit is most often associated with calcium channels in the brain, particularly the part of the brain that is involved in coordinating movements (the cerebellum).
In the brain, calcium channels play an essential role in communication between nerve cells (neurons). These channels help control the release of neurotransmitters, which are chemicals that relay signals from one neuron to another. Researchers believe that calcium channels are also involved in the survival of neurons and the ability of these cells to change and adapt over time (plasticity).
Does the CACNB4 gene share characteristics with other genes?
The CACNB4 gene belongs to a family of genes called CACN (calcium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CACNB4 gene related to health conditions?
Genetics Home Reference provides information about juvenile myoclonic epilepsy, which is also associated with changes in the CACNB4 gene.
Where is the CACNB4 gene located?
Cytogenetic Location: 2q22-q23
Molecular Location on chromosome 2: base pairs 151,832,770 to 152,099,987
The CACNB4 gene is located on the long (q) arm of chromosome 2 between positions 22 and 23.
More precisely, the CACNB4 gene is located from base pair 151,832,770 to base pair 152,099,987 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CACNB4?
You and your healthcare professional may find the following resources about CACNB4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CACNB4 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CACNB4?
amino acid ; ataxia ; calcium ; cell ; cerebellum ; channel ; contraction ; cysteine ; epilepsy ; gene ; ions ; ion transport ; juvenile ; mutation ; neurological ; neuron ; neurotransmitters ; phenylalanine ; plasticity ; protein ; subunit ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.