SCN5A(redirected from OTTHUMP00000209284)
SCN5AA 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.
SCN5A mutations are long QT syndrome type 3.
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