MYOT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MYOT wild-type allele is located in the vicinity of 5q31.2 and is approximately 20 kb in length. This allele, which encodes myotilin protein, plays a role in thin filament formation in myofibrils. Mutations in the gene are associated with myofibrillar myopathy 3.

**Synonyms:** - LGMD1 - LGMD1A - Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant) Gene - MFM3 - Myofibrillar Myopathy 3 Gene - Myotilin wt Allele - TTID - TTOD - Titin Immunoglobulin Domain Protein (Myotilin) Gene