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Reviewed January 2014
What is the official name of the SCN1A gene?
The official name of this gene is “sodium channel, voltage gated, type I alpha subunit.”
SCN1A is the gene's official symbol. The SCN1A 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 SCN1A gene?
The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN1A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.1. These channels are found in the brain and muscles, where they control the flow of sodium ions into cells. In the brain, NaV1.1 channels are involved in transmitting signals from one nerve cell (neuron) to another. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The flow of sodium ions through NaV1.1 channels helps determine when neurotransmitters will be released.
Does the SCN1A gene share characteristics with other genes?
The SCN1A gene belongs to a family of genes called SC (sodium 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 SCN1A gene related to health conditions?
Genetics Home Reference provides information about malignant migrating partial seizures of infancy, which is also associated with changes in the SCN1A gene.
Where is the SCN1A gene located?
Cytogenetic Location: 2q24.3
Molecular Location on chromosome 2: base pairs 165,989,160 to 166,149,272
The SCN1A gene is located on the long (q) arm of chromosome 2 at position 24.3.
More precisely, the SCN1A gene is located from base pair 165,989,160 to base pair 166,149,272 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SCN1A?
You and your healthcare professional may find the following resources about SCN1A 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 SCN1A 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 SCN1A?
acids ; action potential ; amino acid ; carbamazepine ; cell ; channel ; DNA ; epilepsy ; familial ; fever ; gene ; hemiplegic ; ions ; migraine ; nerve cell ; neuron ; neurotransmitters ; nucleotide ; polymorphism ; protein ; seizure ; side effects ; sodium ; sodium channel ; subunit ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)