SCN5A

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SCN5A

A gene on chromosome 3p21 that encodes an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel alpha subunit, which is expressed primarily in cardiac myocytes and is responsible beginning the action potential as seen on an ECG/EKG.
 
Molecular pathology
SCN5A mutations are long QT syndrome type 3.
References in periodicals archive ?
This defect causes patients to have a disruption in bowel function, by affecting the Nav1.
Long QT3 syndrome results from an increase in sodium channel function due to mutation in a protein Nav1.
But because macrophages can also be part of the autoimmune response that damages the protective covering (myelin) of the nerves in people with MS, scientists weren't sure whether the NaV1.