RYR2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RYR2 wild-type allele is located in the vicinity of 1q43 and is approximately 792 kb in length. This allele, which encodes ryanodine receptor 2 protein, plays a role in heart development and cardiac muscle contraction. Mutations in the gene are associated with catecholaminergic polymorphic ventricular tachycardia 1 and ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.

**Synonyms:** - ARVC2 - ARVD2 - Arrhythmogenic Right Ventricular Dysplasia 2 Gene - Cardiac, Ryanodine Receptor Gene - Cardiac-Type Ryanodine Receptor Gene - Islet-Type Ryanodine Receptor Gene - Kidney-Type Ryanodine Receptor Gene - RYR-2 - RyR - Ryanodine Receptor 2 (Cardiac) Gene - Ryanodine Receptor 2 wt Allele - VACRDS - VTSIP