SCN5A(redirected from HBBD)
Also found in: Acronyms.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.