LARGE1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human LARGE1 wild-type allele is located in the vicinity of 22q12.3 and is approximately 856 kb in length. This allele, which encodes xylosyl- and glucuronyltransferase LARGE1 protein, is involved in the maturation of alpha-dystroglycan and protein glycosylation. Mutation of the gene is associated with muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) and muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6 (MDDGB6).

**Synonyms:** - Acetylglucosaminyltransferase-Like Protein Gene - EIEE36 - Glycosyltransferase-Like Protein LARGE1 Gene - KIAA0609 - LARGE - LARGE Xylosyl- and Glucuronyltransferase 1 wt Allele - Like-Acetylglucosaminyltransferase Gene - Like-Glycosyltransferase Gene - MDC1D - MDDGA6 - MDDGB6