POMT2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POMT2 wild-type allele is located in the vicinity of 14q24.3 and is approximately 46 kb in length. This allele, which encodes protein O-mannosyl-transferase 2 protein, is involved in the transfer of mannosyl residues to the hydroxyl group of serine or threonine residues. Mutations in the gene are associated with muscular dystrophy-dystroglycanopathy types A2 (congenital with brain and eye anomalies), B2 (congenital with impaired intellectual development) and C2 (limb-girdle).

**Synonyms:** - LGMD2N - LGMDR14 - MDDGA2 - MDDGB2 - MDDGC2 - Protein O-Mannosyltransferase 2 wt Allele