POMGNT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POMGNT1 wild-type allele is located in the vicinity of 1p34.1 and is approximately 32 kb in length. This allele, which encodes protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 protein, is involved in the extension of glycan moieties of glycoproteins. Mutations in the gene are associated with retinitis pigmentosa 76 and muscular dystrophy-dystroglycanopathy types A3 (congenital with brain and eye anomalies), B3 (congenital with impaired intellectual development) and C3 (limb-girdle).

**Synonyms:** - FLJ20277 - GNTI.2 - GnT I.2 - LGMD2O - LGMDR15 - MEB - MGAT1.2 - Muscle-Eye-Brain Disease Gene - Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Gene - Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-) wt Allele - Protein O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase Gene - RP76 - gnT-I.2