SGCA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SGCA wild-type allele is located in the vicinity of 17q21.33 and is approximately 12 kb in length. This allele, which encodes alpha-sarcoglycan protein, is involved in the stability of muscle fiber membranes and linking the actin cytoskeleton to the extracellular matrix. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-3 (limb-girdle muscular dystrophy type 2D).

**Synonyms:** - 50-DAG - 50DAG - 50kD DAG - ADL - Adhalin Gene - DAG2 - DMDA2 - Dystrophin-Associated Glycoprotein, 50-kD Gene - LGMD2D - LGMDR3 - Limb Girdle Muscular Dystrophy 2D Gene - SCARMD1 - Sarcoglycan Alpha wt Allele - Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein) Gene - Sarcoglycan, Alpha Gene