LARGE1 wt Allele

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;

Details

Origin ID

C202867;

UMLS CUI

C5890938;

OMIM relation
- Acetylglucosaminyltransferase-like protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- O-Mannosyl Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Matrix Adhesion Process [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- Glycosylation [NCIt concept]
- Histogenic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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