C192752Level 4
CASQ2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CASQ2 wild-type allele is located in the vicinity of 1p13.1 and is approximately 69 kb in length. This allele, which encodes calsequestrin-2 protein, plays a role in calcium localization in cardiac muscle cells. Mutation of the gene is associated with catecholaminergic polymorphic ventricular tachycardia 2.
**Synonyms:** - Calsequestrin 2 (Cardiac Muscle) Gene - Calsequestrin 2 wt Allele - Calsequestrin 2, Fast-Twitch, Cardiac Muscle Gene - PDIB2
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