May be involved in formation of stretch-resistant cell-cell adhesion complexes.
Arrhythmogenic right ventricular dysplasia, familial, 13
ARVD13
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the vinculin/alpha-catenin family.
Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.
Proteins
99809Da
We found 2 products in 1 category