CAV3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CAV3 wild-type allele is located in the vicinity of 3p25.3 and is approximately 108 kb in length. This allele, which encodes caveolin-3 protein, is involved in caveolae formation Mutation of the gene is associated with familial hypertrophic cardiomyopathy, long QT syndrome 9, distal Tateyama type myopathy, limb-girdle muscular dystrophy type-1C, hyperCKemia and rippling muscle disease 2.

**Synonyms:** - Caveolin 3 wt Allele - LGMD1C - LQT9 - MPDT - RMD2 - VIP-21 - VIP21