[HTML][HTML] Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia
K Ueda, K Nakamura, T Hayashi, N Inagaki… - Journal of Biological …, 2004 - ASBMB
Hyperpolarization-activated cyclic nucleotide-gated channel 4 gene HCN4 is a pacemaker
channel that plays a key role in automaticity of sinus node in the heart, and an HCN4
mutation was reported in a patient with sinus node dysfunction. Expression of HCN4 in the
heart is, however, not confined to the sinus node cells but is found in other tissues, including
cells of the conduction system. On the other hand, mutations in another cardiac ion channel
gene, SCN5A, also cause sinus node dysfunction as well as other cardiac arrhythmias …
channel that plays a key role in automaticity of sinus node in the heart, and an HCN4
mutation was reported in a patient with sinus node dysfunction. Expression of HCN4 in the
heart is, however, not confined to the sinus node cells but is found in other tissues, including
cells of the conduction system. On the other hand, mutations in another cardiac ion channel
gene, SCN5A, also cause sinus node dysfunction as well as other cardiac arrhythmias …