GNPTAB Gene - CISMeF

Preferred Label : GNPTAB Gene;

NCIt synonyms : GNPTAB; N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha and Beta Gene;

NCIt definition : This gene is involved in the addition of mannose 6-phosphate to glycoproteins.;

Détails

Origin ID

C202959;

UMLS CUI

C1825380;

HGNC gene
- N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [HGNC gene]
OMIM relation
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GNPTAB gene [LOINC component]
- N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [HGNC gene]
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
gene_encodes_gene_product
- N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- I-Cell Disease [NCIt concept]
- Mucolipidosis Type IIIA [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]

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