Skip to main content
Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

Fig. 2

The interactions among NEBL, NPPA and SCN5A associated with Brugada syndrome. The desmosome proteins of cardiomyocytes include desmoglein-2 (DSG2), desmocollin-2 (DSC2), plakophilin-2 (PKP2), desmoplakin (DSP), desmin (DES). SCN5A encoded Nav1.5 protein, as a subunit of the cardiac sodium channel. Ankyrin-G (AnkG) promotes the Nav1.5 anchoring and localizing to the cell membrane. Cav1.2 and Cav1.3 are the subunits of the L-type calcium channel. According to previous research, the arrows illustrate that DSG2, PKP2, DSP, and DES dysfunction would abnormally regulate sodium channel function (Nav1.5). NEBL, nebulin-like protein. NPPA, natriuretic peptide precursor A

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172