" /> LARGE1 wt Allele - CISMeF





Preferred Label : LARGE1 wt Allele;

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

NCIt 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).;

NCI Metathesaurus CUI : CL1921672;

GenBank Accession Number : AJ007583;

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31/07/2025


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