POMT1 Gene - CISMeF

Preferred Label : POMT1 Gene;

NCIt synonyms : Protein O-Mannosyltransferase 1 Gene; POMT1;

NCIt definition : This gene is involved in the transfer of mannosyl residues to the hydroxyl group of serine or threonine residues in proteins.;

Details

Origin ID

C204530;

UMLS CUI

C1418752;

HGNC gene
- protein O-mannosyltransferase 1 [HGNC gene]
OMIM relation
- Protein o-mannosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMT1 gene [LOINC component]
- Protein o-mannosyltransferase 1 [OMIM gene]
- protein O-mannosyltransferase 1 [HGNC gene]
gene_encodes_gene_product
- Protein O-Mannosyl-Transferase 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, 1 [NCIt concept]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients