POMT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POMT1 wild-type allele is located in the vicinity of 9q34.13 and is approximately 21 kb in length. This allele, which encodes protein O-mannosyl-transferase 1 protein, plays a role in O-mannosylation of proteins. Mutations in the gene are associated with muscular dystrophy-dystroglycanopathy types A1 (congenital with brain and eye anomalies), B1 (congenital with impaired intellectual development) and C1 (limb-girdle).

**Synonyms:** - LGMD2K - LGMDR11 - MDDGA1 - MDDGB1 - MDDGC1 - Protein O-Mannosyltransferase 1 wt Allele - RT - Rotated Abdomen, Drosophila, Homolog of Gene