LARGE1 Gene - CISMeF

Preferred Label : LARGE1 Gene;

NCIt synonyms : LARGE1; LARGE Xylosyl- and Glucuronyltransferase 1 Gene;

NCIt definition : This gene plays a role in O-linked protein glycosylation and the maturation of alpha-dystroglycan.;

Details

Origin ID

C202866;

UMLS CUI

C1416798;

HGNC gene
- LARGE xylosyl- and glucuronyltransferase 1 [HGNC gene]
OMIM relation
- Acetylglucosaminyltransferase-like protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetylglucosaminyltransferase-like protein [OMIM gene]
- LARGE xylosyl- and glucuronyltransferase 1 [HGNC gene]
gene_encodes_gene_product
- Xylosyl- and Glucuronyltransferase LARGE1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 [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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