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 primarily found in the brain, where they control the flow of sodium ions into cells. 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.
Other Names
GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SCN1A_HUMAN; sodium channel protein, brain I alpha subunit; sodium channel, voltage gated, type I alpha subunit; sodium channel, voltage-gated, type I, alpha; sodium channel, voltage-gated, type I, alpha polypeptide; sodium channel, voltage-gated, type I, alpha subunit
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Identifiers
- NCBI Gene: 6323
- OMIM: 182389
- OMIM: 604233
- OMIM: 604403
- OMIM: 607208
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
