CAPN3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CAPN3 wild-type allele is located in the vicinity of 15q15.1 and is approximately 53 kb in length. This allele, which encodes calpain-3 protein, is involved in cysteine proteinase activity. Mutation of the gene is associated with autosomal recessive limb-girdle muscular dystrophy 1 (limb-girdle muscular dystrophy type 2A) and autosomal dominant limb-girdle muscular dystrophy 4.

**Synonyms:** - CANP3 - CANPL3 - Calcium-Activated Neutral Protease 3, Muscle-Specific, Large Subunit Gene - Calpain 3 wt Allele - Calpain III, Large Subunit Gene - Calpain p94, Large [Catalytic] Subunit Gene - Calpain, Large Polypeptide L3 Gene - LGMD2 - LGMD2A - LGMDD4 - LGMDR1 - Muscle-Specific Calcium-Activated Neutral Protease 3 Large Subunit Gene - nCL-1 - p94