POMGNT1 Gene - CISMeF

Preferred Label : POMGNT1 Gene;

NCIt synonyms : Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-) Gene; POMGNT1;

NCIt definition : This gene plays a role in O-mannosyl glycosylation extension of glycan moieties on proteins.;

Détails

Origin ID

C204527;

UMLS CUI

C1826644;

HGNC gene
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [HGNC gene]
OMIM relation
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMGNT1 gene [LOINC component]
- Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase [OMIM gene]
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [HGNC gene]
gene_encodes_gene_product
- Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3 [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

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