C1GALT1C1 wt Allele

Preferred Label : C1GALT1C1 wt Allele;

NCIt synonyms : C1GALT1-Specific Chaperone 1 wt Allele; COSMC; TNPS; C38H2-L1; C1GALT2; MST143; C1Gal-T2;

NCIt definition : Human C1GALT1C1 wild-type allele is located in the vicinity of Xq24 and is approximately 4 kb in length. This allele, which encodes C1GALT1-specific chaperone 1 protein, plays a chaperone role in mucin-type O-glycan metabolism. Mutations in this gene are associated with somatic Tn polyagglutination syndrome.;

GenBank Accession Number : NM_152692;

Details

Origin ID

C112158;

UMLS CUI

C3812675;

Automatic exact mappings (from CISMeF team)
- C1galt1-specific chaperone 1 [OMIM gene]
- Tn polyagglutination syndrome [OMIM Phenotype]
- UDP-galactose N-acetylgalactosamine peptide beta1,3-galactosyltransferase [MeSH Supplementary Concept]
OMIM relation
- C1galt1-specific chaperone 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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