SLC35C1 wt Allele

Preferred Label : SLC35C1 wt Allele;

NCIt synonyms : Solute Carrier Family 35 (GDP-Fucose Transporter), Member C1 Gene; FLJ11320; FUCT1; CDG2C; Solute Carrier Family 35 Member C1 wt Allele; Solute Carrier Family 35, Member C1 Gene;

NCIt definition : Human SLC35C1 wild-type allele is located in the vicinity of 11p11.2 and is approximately 9 kb in length. This allele, which encodes GDP-fucose transporter 1 protein, plays a role in the cellular localization of GDP-fucose that regulates protein and lipid glycosylation. Mutation of the gene is associated with congenital disorder of glycosylation IIc (also called leukocyte adhesion deficiency 2).;

NCI Metathesaurus CUI : CL1905141;

GenBank Accession Number : NM_018389;

Details

Origin ID

C191821;

UMLS CUI

C5780967;

Automatic exact mappings (from CISMeF team)
- Leukocyte adhesion deficiency type II [ORDO Disease]
OMIM relation
- Solute carrier family 35, member c1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_is_element_in_pathway
- N-Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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