|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “solute carrier family 1 (glial high affinity glutamate transporter), member 3.”
SLC1A3 is the gene's official symbol. The SLC1A3 gene is also known by other names, listed below.
The SLC1A3 gene provides instructions for making a protein called excitatory amino acid transporter 1 (EAAT1). EAAT1 transports a molecule called glutamate in the brain. Glutamate is one of several brain chemicals called neurotransmitters, which allow nerve cells (neurons) to communicate with one another. EAAT1 is found throughout the brain, but it is most abundant in the part of the brain that is connected to the spinal cord (the brainstem) and the region of the brain involved in coordinating movements (the cerebellum).
Neurotransmitters (such as glutamate) are released from neurons and relay signals to other cells by attaching to receptor proteins on neighboring neurons. After the neurotransmitters have had their effect, they detach from their receptors and must be cleared from the spaces between neurons. Researchers have determined that EAAT1 is one of several glutamate transporters that clear excess glutamate from these spaces. This process is carefully regulated to ensure that signals are transmitted accurately throughout the nervous system. The timely removal of glutamate is also necessary to prevent a buildup of this neurotransmitter between cells, which would be toxic to neurons.
The SLC1A3 gene belongs to a family of genes called SLC (solute carriers).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least one mutation in the SLC1A3 gene has been found to cause episodic ataxia type 6 (EA6). This mutation changes a single protein building block (amino acid) in the EAAT1 protein, replacing the amino acid proline with the amino acid arginine at position 290 (written as Pro290Arg). Research has shown that this genetic change likely impairs the ability of EAAT1 to remove glutamate from the spaces between neurons. The impaired uptake of glutamate may overexcite certain neurons in the brain, which disrupts normal communication between these cells. Although changes in signaling between neurons underlie the episodes of uncoordinated movement seen in people with episodic ataxia, it is unclear how altered glutamate transport causes the specific features of the condition.
Cytogenetic Location: 5p13
Molecular Location on chromosome 5: base pairs 36,606,354 to 36,688,333
The SLC1A3 gene is located on the short (p) arm of chromosome 5 at position 13.
More precisely, the SLC1A3 gene is located from base pair 36,606,354 to base pair 36,688,333 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SLC1A3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; arginine ; astrocytes ; ataxia ; brainstem ; carrier ; cerebellum ; gene ; molecule ; mutation ; nervous system ; neurotransmitters ; proline ; protein ; receptor ; sodium ; solute ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.