SCN2A


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SCN2A

A gene on chromosome 2q24.3 that encodes a large alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN2A protein product is expressed in muscle and brain.

Molecular pathology
SCN2A mutations are linked to various seizure disorders.
References in periodicals archive ?
Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
A gain-of-function mutation in the sodium channel gene SCN2A results in seizures and behavioral abnormalities.